{
  "concept_id": 4172,
  "concept_version_id": 11532,
  "coding_system": {
    "id": 9,
    "name": "SNOMED  CT codes",
    "description": "SNOMED CT codes"
  },
  "name": "Other congenital malformations and chromosomal abnormalities (SNOMED-CT)",
  "description": null,
  "author": "",
  "entry_date": "2025-01-19",
  "validation_performed": false,
  "validation_description": null,
  "publication_doi": "",
  "publication_link": "",
  "secondary_publication_links": null,
  "paper_published": false,
  "source_reference": "",
  "citation_requirements": null,
  "owner_access": 3,
  "group_access": 1,
  "world_access": 1,
  "tags": null,
  "collections": null,
  "created_by": null,
  "modified_by": null,
  "owner": null,
  "group": null,
  "phenotype_owner": "PH1712",
  "phenotype_owner_history_id": 3637,
  "requested_entity_id": null,
  "components": [
    {
      "id": 9999,
      "name": "Inclusion 1",
      "logical_type": "INCLUDE",
      "source_type": "FILE_IMPORT",
      "source": "text/csv",
      "codes": [
        {
          "id": 539612,
          "code": "10007009",
          "description": "Coffin-Siris syndrome (disorder)"
        },
        {
          "id": 539613,
          "code": "10177005",
          "description": "Triploidy, diploidy, mixoploidy syndrome (disorder)"
        },
        {
          "id": 539614,
          "code": "10567003",
          "description": "Four X syndrome (disorder)"
        },
        {
          "id": 539615,
          "code": "10572007",
          "description": "13q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539616,
          "code": "111303009",
          "description": "SjÃ¶gren-Larsson syndrome (disorder)"
        },
        {
          "id": 539617,
          "code": "111309008",
          "description": "8q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539618,
          "code": "111310003",
          "description": "Ring chromosome 11 syndrome (disorder)"
        },
        {
          "id": 539619,
          "code": "111311004",
          "description": "20p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539620,
          "code": "111312006",
          "description": "Anomaly of chromosome X (disorder)"
        },
        {
          "id": 539621,
          "code": "11164009",
          "description": "Autosomal dominant hereditary disorder (disorder)"
        },
        {
          "id": 539622,
          "code": "123644009",
          "description": "Gynandromorphism syndrome (disorder)"
        },
        {
          "id": 539623,
          "code": "123645005",
          "description": "Group chromosomal alteration (disorder)"
        },
        {
          "id": 539624,
          "code": "123646006",
          "description": "Chromosomal alterations of group A (disorder)"
        },
        {
          "id": 539625,
          "code": "123647002",
          "description": "Chromosomal alterations of group B (disorder)"
        },
        {
          "id": 539626,
          "code": "123648007",
          "description": "Chromosomal alterations of group C and X (disorder)"
        },
        {
          "id": 539627,
          "code": "123649004",
          "description": "Chromosomal alterations of group D (disorder)"
        },
        {
          "id": 539628,
          "code": "123650004",
          "description": "Chromosomal alterations of group E (disorder)"
        },
        {
          "id": 539629,
          "code": "123651000",
          "description": "Chromosomal alterations of group F (disorder)"
        },
        {
          "id": 539630,
          "code": "123652007",
          "description": "Chromosomal alterations of group G and Y (disorder)"
        },
        {
          "id": 539631,
          "code": "125491000119103",
          "description": "Fetus with Turner syndrome (disorder)"
        },
        {
          "id": 539632,
          "code": "125501000119105",
          "description": "Fetus with complete trisomy 21 syndrome (disorder)"
        },
        {
          "id": 539633,
          "code": "125511000119108",
          "description": "Fetus with complete trisomy 18 syndrome (disorder)"
        },
        {
          "id": 539634,
          "code": "125521000119101",
          "description": "Fetus with complete trisomy 13 syndrome (disorder)"
        },
        {
          "id": 539635,
          "code": "1280009",
          "description": "Isologous chimera (disorder)"
        },
        {
          "id": 539636,
          "code": "13280000",
          "description": "Femoral hypoplasia - unusual facies syndrome (disorder)"
        },
        {
          "id": 539637,
          "code": "13555004",
          "description": "Ring chromosome 22 syndrome (disorder)"
        },
        {
          "id": 539638,
          "code": "13674001",
          "description": "Anomaly of chromosome pair 3 (disorder)"
        },
        {
          "id": 539639,
          "code": "14091009",
          "description": "12p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539640,
          "code": "1479009",
          "description": "20q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539641,
          "code": "14921002",
          "description": "Aarskog syndrome (disorder)"
        },
        {
          "id": 539642,
          "code": "15069006",
          "description": "Russell-Silver syndrome (disorder)"
        },
        {
          "id": 539643,
          "code": "15182000",
          "description": "Coffin-Lowry syndrome (disorder)"
        },
        {
          "id": 539644,
          "code": "15228007",
          "description": "Atrophia bulborum hereditaria (disorder)"
        },
        {
          "id": 539645,
          "code": "15557005",
          "description": "First arch syndrome (disorder)"
        },
        {
          "id": 539646,
          "code": "15841002",
          "description": "21q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539647,
          "code": "15960021000119107",
          "description": "Dilatation of aortic root co-occurrent and due to Marfan syndrome (disorder)"
        },
        {
          "id": 539648,
          "code": "15993551000119100",
          "description": "Disorder of eye co-occurrent and due to Marfan syndrome (disorder)"
        },
        {
          "id": 539649,
          "code": "16055631000119106",
          "description": "Disorder of cardiovascular system co-occurrent and due to Marfan syndrome (disorder)"
        },
        {
          "id": 539650,
          "code": "16129004",
          "description": "10q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539651,
          "code": "16569009",
          "description": "Anomaly of chromosome pair 15 (disorder)"
        },
        {
          "id": 539652,
          "code": "17122004",
          "description": "4p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539653,
          "code": "17608003",
          "description": "Child syndrome (disorder)"
        },
        {
          "id": 539654,
          "code": "17760001",
          "description": "Anomaly of chromosome pair 13 (disorder)"
        },
        {
          "id": 539655,
          "code": "1779005",
          "description": "Mohr syndrome (disorder)"
        },
        {
          "id": 539656,
          "code": "18077009",
          "description": "Trichorhinophalangeal syndrome (disorder)"
        },
        {
          "id": 539657,
          "code": "18899000",
          "description": "Schinzel-Giedion syndrome (disorder)"
        },
        {
          "id": 539658,
          "code": "1899006",
          "description": "Autosomal hereditary disorder (disorder)"
        },
        {
          "id": 539659,
          "code": "19092004",
          "description": "Holt-Oram syndrome (disorder)"
        },
        {
          "id": 539660,
          "code": "19346006",
          "description": "Marfan's syndrome (disorder)"
        },
        {
          "id": 539661,
          "code": "19419002",
          "description": "8p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539662,
          "code": "19550003",
          "description": "22q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539663,
          "code": "199526007",
          "description": "Fetus with chromosomal abnormality - delivered (disorder)"
        },
        {
          "id": 539664,
          "code": "199527003",
          "description": "Fetus with chromosomal abnormality with antenatal problem (disorder)"
        },
        {
          "id": 539665,
          "code": "20348002",
          "description": "14q partial distal trisomy syndrome (disorder)"
        },
        {
          "id": 539666,
          "code": "204102004",
          "description": "Cryptophthalmos syndrome (disorder)"
        },
        {
          "id": 539667,
          "code": "205258009",
          "description": "Acrocephalosyndactyly type I (disorder)"
        },
        {
          "id": 539668,
          "code": "205260006",
          "description": "Acrocephalopolysyndactyly (disorder)"
        },
        {
          "id": 539669,
          "code": "205418005",
          "description": "Goldenhar syndrome (disorder)"
        },
        {
          "id": 539670,
          "code": "205473008",
          "description": "Mesomelic dysplasia (disorder)"
        },
        {
          "id": 539671,
          "code": "205615000",
          "description": "Trisomy 21- meiotic nondisjunction (disorder)"
        },
        {
          "id": 539672,
          "code": "205616004",
          "description": "Trisomy 21- mitotic nondisjunction mosaicism (disorder)"
        },
        {
          "id": 539673,
          "code": "205619006",
          "description": "Trisomy 13, meiotic nondisjunction (disorder)"
        },
        {
          "id": 539674,
          "code": "205620000",
          "description": "Trisomy 13 - mitotic nondisjunction mosaicism (disorder)"
        },
        {
          "id": 539675,
          "code": "205623003",
          "description": "Trisomy 18 - meiotic nondisjunction (disorder)"
        },
        {
          "id": 539676,
          "code": "205624009",
          "description": "Trisomy 18 - mitotic nondisjunction mosaicism (disorder)"
        },
        {
          "id": 539677,
          "code": "205627002",
          "description": "Monosomy and deletion from autosome (disorder)"
        },
        {
          "id": 539678,
          "code": "205630009",
          "description": "Deletion of long arm of chromosome 13 (disorder)"
        },
        {
          "id": 539679,
          "code": "205634000",
          "description": "Deletion seen only at prometaphase (disorder)"
        },
        {
          "id": 539680,
          "code": "205636003",
          "description": "Whole chromosome monosomy - meiotic nondisjunction (disorder)"
        },
        {
          "id": 539681,
          "code": "205638002",
          "description": "Monosomy 21, mosaicism (disorder)"
        },
        {
          "id": 539682,
          "code": "205646001",
          "description": "Whole chromosome trisomy syndrome (disorder)"
        },
        {
          "id": 539683,
          "code": "205647005",
          "description": "Trisomy 6 (disorder)"
        },
        {
          "id": 539684,
          "code": "205648000",
          "description": "Trisomy 7 (disorder)"
        },
        {
          "id": 539685,
          "code": "205649008",
          "description": "Trisomy 8 (disorder)"
        },
        {
          "id": 539686,
          "code": "205650008",
          "description": "Trisomy 9 (disorder)"
        },
        {
          "id": 539687,
          "code": "205651007",
          "description": "Trisomy 10 (disorder)"
        },
        {
          "id": 539688,
          "code": "205652000",
          "description": "Trisomy 11 (disorder)"
        },
        {
          "id": 539689,
          "code": "205653005",
          "description": "Trisomy 12 (disorder)"
        },
        {
          "id": 539690,
          "code": "205655003",
          "description": "Trisomy 22 (disorder)"
        },
        {
          "id": 539691,
          "code": "205657006",
          "description": "Whole chromosome trisomy, mosaicism (disorder)"
        },
        {
          "id": 539692,
          "code": "205660004",
          "description": "Partial trisomy syndromes (disorder)"
        },
        {
          "id": 539693,
          "code": "205661000",
          "description": "Major partial trisomy (disorder)"
        },
        {
          "id": 539694,
          "code": "205662007",
          "description": "Minor partial trisomy (disorder)"
        },
        {
          "id": 539695,
          "code": "205665009",
          "description": "Duplication seen only at prometaphase (disorder)"
        },
        {
          "id": 539696,
          "code": "205666005",
          "description": "Duplication with other complex rearrangement (disorder)"
        },
        {
          "id": 539697,
          "code": "205673000",
          "description": "Balanced autosomal rearrangement in abnormal individual (disorder)"
        },
        {
          "id": 539698,
          "code": "205681004",
          "description": "Gonadal dysgenesis (disorder)"
        },
        {
          "id": 539699,
          "code": "205683001",
          "description": "Ovarian dysgenesis (disorder)"
        },
        {
          "id": 539700,
          "code": "205684007",
          "description": "Turner's phenotype, karyotype normal (disorder)"
        },
        {
          "id": 539701,
          "code": "205686009",
          "description": "Karyotype 46, X iso (Xq) (disorder)"
        },
        {
          "id": 539702,
          "code": "205687000",
          "description": "Karyotype 46, X with abnormal sex chromosome except iso (Xq) (disorder)"
        },
        {
          "id": 539703,
          "code": "205693008",
          "description": "XY, female phenotype (disorder)"
        },
        {
          "id": 539704,
          "code": "205706002",
          "description": "Sex chromosome mosaicism (disorder)"
        },
        {
          "id": 539705,
          "code": "205707006",
          "description": "Mosaic XO/XY (disorder)"
        },
        {
          "id": 539706,
          "code": "205709009",
          "description": "Mosaic XY/XXY (disorder)"
        },
        {
          "id": 539707,
          "code": "205710004",
          "description": "Mosaic including XXXXY (disorder)"
        },
        {
          "id": 539708,
          "code": "205718006",
          "description": "Chimera 46, XX; 46, XY (disorder)"
        },
        {
          "id": 539709,
          "code": "205719003",
          "description": "46, XX true hermaphrodite (disorder)"
        },
        {
          "id": 539710,
          "code": "205720009",
          "description": "Fragile X chromosome (disorder)"
        },
        {
          "id": 539711,
          "code": "205728002",
          "description": "Duplication of chromosome (disorder)"
        },
        {
          "id": 539712,
          "code": "205797000",
          "description": "Congenital malformation syndromes affecting facial appearance (disorder)"
        },
        {
          "id": 539713,
          "code": "205798005",
          "description": "Cyclopia (disorder)"
        },
        {
          "id": 539714,
          "code": "205800003",
          "description": "Gorlin-Chaudhry-Moss syndrome (disorder)"
        },
        {
          "id": 539715,
          "code": "205802006",
          "description": "Oculo-palato-digital syndrome (disorder)"
        },
        {
          "id": 539716,
          "code": "205808005",
          "description": "Congenital malformation syndromes associated with short stature (disorder)"
        },
        {
          "id": 539717,
          "code": "205812004",
          "description": "Congenital malformation syndromes involving limbs (disorder)"
        },
        {
          "id": 539718,
          "code": "205817005",
          "description": "Aglossia-adactyly syndrome (disorder)"
        },
        {
          "id": 539719,
          "code": "205821003",
          "description": "Congenital contractural arachnodactyly (disorder)"
        },
        {
          "id": 539720,
          "code": "205824006",
          "description": "Noonan's syndrome (disorder)"
        },
        {
          "id": 539721,
          "code": "205826008",
          "description": "Congenital malformation syndromes with metabolic disturbances (disorder)"
        },
        {
          "id": 539722,
          "code": "205828009",
          "description": "Biemond's syndrome (disorder)"
        },
        {
          "id": 539723,
          "code": "205838004",
          "description": "Congenital hemihypertrophy (disorder)"
        },
        {
          "id": 539724,
          "code": "21086008",
          "description": "Cockayne syndrome (disorder)"
        },
        {
          "id": 539725,
          "code": "21111006",
          "description": "Complete trisomy 13 syndrome (disorder)"
        },
        {
          "id": 539726,
          "code": "21508001",
          "description": "Complete trisomy 14 syndrome (disorder)"
        },
        {
          "id": 539727,
          "code": "21634003",
          "description": "Borjeson-Forssman-Lehmann syndrome (disorder)"
        },
        {
          "id": 539728,
          "code": "22199006",
          "description": "Nail-patella syndrome (disorder)"
        },
        {
          "id": 539729,
          "code": "2229005",
          "description": "Chimera (disorder)"
        },
        {
          "id": 539730,
          "code": "22497004",
          "description": "9q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539731,
          "code": "227035005",
          "description": "21q partial distal trisomy syndrome (disorder)"
        },
        {
          "id": 539732,
          "code": "228050004",
          "description": "21q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539733,
          "code": "230263009",
          "description": "Autosomal dominant spastic paraplegia type 17 (disorder)"
        },
        {
          "id": 539734,
          "code": "23150001",
          "description": "Proteus syndrome (disorder)"
        },
        {
          "id": 539735,
          "code": "232059000",
          "description": "Laurence-Moon syndrome (disorder)"
        },
        {
          "id": 539736,
          "code": "23359005",
          "description": "Multiple malformation syndrome with facial-limb defects as major feature (disorder)"
        },
        {
          "id": 539737,
          "code": "233663004",
          "description": "Primary ciliary dyskinesia due to transposition of ciliary microtubules (disorder)"
        },
        {
          "id": 539738,
          "code": "233664005",
          "description": "Immotile cilia syndrome due to defective radial spokes (disorder)"
        },
        {
          "id": 539739,
          "code": "233665006",
          "description": "Immotile cilia syndrome due to excessively long cilia (disorder)"
        },
        {
          "id": 539740,
          "code": "233666007",
          "description": "Young's syndrome (disorder)"
        },
        {
          "id": 539741,
          "code": "233667003",
          "description": "Rutland ciliary disorientation syndrome (disorder)"
        },
        {
          "id": 539742,
          "code": "234035006",
          "description": "Marfan's syndrome affecting skin (disorder)"
        },
        {
          "id": 539743,
          "code": "234138005",
          "description": "Bannayan syndrome (disorder)"
        },
        {
          "id": 539744,
          "code": "234143003",
          "description": "Parkes Weber syndrome (disorder)"
        },
        {
          "id": 539745,
          "code": "234146006",
          "description": "Hennekam lymphangiectasia-lymphedema syndrome (disorder)"
        },
        {
          "id": 539746,
          "code": "234633000",
          "description": "Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder)"
        },
        {
          "id": 539747,
          "code": "234635007",
          "description": "Chromosome 22 abnormalities with hypogammaglobulinemia (disorder)"
        },
        {
          "id": 539748,
          "code": "234636008",
          "description": "Monosomy 22 and absence of immunoglobulin A (disorder)"
        },
        {
          "id": 539749,
          "code": "234639001",
          "description": "Triple X syndrome, epilepsy, and hypogammaglobulinemia (disorder)"
        },
        {
          "id": 539750,
          "code": "236419006",
          "description": "Progressive hereditary glomerulonephritis without deafness (disorder)"
        },
        {
          "id": 539751,
          "code": "23686004",
          "description": "Ring chromosome 20 syndrome (disorder)"
        },
        {
          "id": 539752,
          "code": "237608006",
          "description": "Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus (disorder)"
        },
        {
          "id": 539753,
          "code": "237610008",
          "description": "Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes (disorder)"
        },
        {
          "id": 539754,
          "code": "237614004",
          "description": "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder)"
        },
        {
          "id": 539755,
          "code": "237918004",
          "description": "Klein-Waardenberg's syndrome (disorder)"
        },
        {
          "id": 539756,
          "code": "238064009",
          "description": "Zellweger's-like syndrome (disorder)"
        },
        {
          "id": 539757,
          "code": "23817003",
          "description": "Levy-Hollister syndrome (disorder)"
        },
        {
          "id": 539758,
          "code": "238826008",
          "description": "de Barsy syndrome (disorder)"
        },
        {
          "id": 539759,
          "code": "239010003",
          "description": "Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)"
        },
        {
          "id": 539760,
          "code": "239025003",
          "description": "Dwarfism, alopecia, pseudoanodontia, cutis laxa (disorder)"
        },
        {
          "id": 539761,
          "code": "239030004",
          "description": "Orofacial-digital syndrome III (disorder)"
        },
        {
          "id": 539762,
          "code": "239031000",
          "description": "Orofacial-digital syndrome IV (disorder)"
        },
        {
          "id": 539763,
          "code": "239041002",
          "description": "Dento-oculocutaneous syndrome (disorder)"
        },
        {
          "id": 539764,
          "code": "239056006",
          "description": "Flynn-Aird syndrome (disorder)"
        },
        {
          "id": 539765,
          "code": "239060009",
          "description": "Atypical ichthyosis vulgaris with hypogonadism (disorder)"
        },
        {
          "id": 539766,
          "code": "239826001",
          "description": "Chronic infantile neurological, cutaneous and articular syndrome (disorder)"
        },
        {
          "id": 539767,
          "code": "24750000",
          "description": "Townes syndrome (disorder)"
        },
        {
          "id": 539768,
          "code": "24786004",
          "description": "7p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539769,
          "code": "248206001",
          "description": "Marfanoid facies (finding)"
        },
        {
          "id": 539770,
          "code": "254054000",
          "description": "Boomerang dysplasia (disorder)"
        },
        {
          "id": 539771,
          "code": "254091006",
          "description": "Trichorhinophalangeal dysplasia type I (disorder)"
        },
        {
          "id": 539772,
          "code": "254101001",
          "description": "Osteodysplastic primordial dwarfism (disorder)"
        },
        {
          "id": 539773,
          "code": "254102008",
          "description": "Osteodysplastic primordial dwarfism, type 1 (disorder)"
        },
        {
          "id": 539774,
          "code": "254132000",
          "description": "Endosteal hyperostoses with cerebellar hypoplasia (disorder)"
        },
        {
          "id": 539775,
          "code": "254137006",
          "description": "Oculodento-osseous dysplasia (disorder)"
        },
        {
          "id": 539776,
          "code": "254138001",
          "description": "Oculodento-osseous dysplasia - severe type (disorder)"
        },
        {
          "id": 539777,
          "code": "254139009",
          "description": "Oculodento-osseous dysplasia - mild type (disorder)"
        },
        {
          "id": 539778,
          "code": "254140006",
          "description": "Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)"
        },
        {
          "id": 539779,
          "code": "254149007",
          "description": "Carpal-tarsal osteolysis with nephropathy (disorder)"
        },
        {
          "id": 539780,
          "code": "254150007",
          "description": "Francois syndrome (disorder)"
        },
        {
          "id": 539781,
          "code": "254259001",
          "description": "Absence of sex chromosome (disorder)"
        },
        {
          "id": 539782,
          "code": "254261005",
          "description": "Pseudotrisomy 18 (disorder)"
        },
        {
          "id": 539783,
          "code": "254262003",
          "description": "Unbalanced translocation and insertion (disorder)"
        },
        {
          "id": 539784,
          "code": "254264002",
          "description": "Partial trisomy 21 in Down's syndrome (disorder)"
        },
        {
          "id": 539785,
          "code": "254266000",
          "description": "Partial trisomy 18 in Edward's syndrome (disorder)"
        },
        {
          "id": 539786,
          "code": "254268004",
          "description": "Partial trisomy 13 in Patau's syndrome (disorder)"
        },
        {
          "id": 539787,
          "code": "254269007",
          "description": "Whole chromosome trisomy meiotic nondisjunction (disorder)"
        },
        {
          "id": 539788,
          "code": "254270008",
          "description": "Whole chromosome trisomy - mitotic nondisjunction mosaicism (disorder)"
        },
        {
          "id": 539789,
          "code": "254272000",
          "description": "Triploidy and polyploidy (disorder)"
        },
        {
          "id": 539790,
          "code": "254273005",
          "description": "Autosomal deletion - mosaicism (disorder)"
        },
        {
          "id": 539791,
          "code": "254274004",
          "description": "Deletion of part of autosome (disorder)"
        },
        {
          "id": 539792,
          "code": "254277006",
          "description": "Sex chromosome abnormality - female phenotype (disorder)"
        },
        {
          "id": 539793,
          "code": "254280007",
          "description": "Turner's phenotype, partial X deletion karyotype (disorder)"
        },
        {
          "id": 539794,
          "code": "254281006",
          "description": "Turner's phenotype - ring chromosome karyotype (disorder)"
        },
        {
          "id": 539795,
          "code": "254282004",
          "description": "Female with more than three X chromosomes (disorder)"
        },
        {
          "id": 539796,
          "code": "254283009",
          "description": "Mosaicism - lines with various numbers of X chromosomes (disorder)"
        },
        {
          "id": 539797,
          "code": "254287005",
          "description": "FRAXA (disorder)"
        },
        {
          "id": 539798,
          "code": "254288000",
          "description": "FRAXE (disorder)"
        },
        {
          "id": 539799,
          "code": "2593002",
          "description": "Dubowitz's syndrome (disorder)"
        },
        {
          "id": 539800,
          "code": "2625009",
          "description": "Senter syndrome (disorder)"
        },
        {
          "id": 539801,
          "code": "26445008",
          "description": "Cat eye syndrome (disorder)"
        },
        {
          "id": 539802,
          "code": "26480007",
          "description": "11p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539803,
          "code": "268262006",
          "description": "Acrocephalosyndactyly (disorder)"
        },
        {
          "id": 539804,
          "code": "268294001",
          "description": "Chromosome replaced with ring or dicentric (disorder)"
        },
        {
          "id": 539805,
          "code": "270520003",
          "description": "Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder)"
        },
        {
          "id": 539806,
          "code": "270521004",
          "description": "Trisomy and partial trisomy of autosome (disorder)"
        },
        {
          "id": 539807,
          "code": "270889005",
          "description": "Deletion of long arm of chromosome 18 (disorder)"
        },
        {
          "id": 539808,
          "code": "270890001",
          "description": "Deletion of short arm of chromosome 18 (disorder)"
        },
        {
          "id": 539809,
          "code": "27183007",
          "description": "Anomaly of chromosome pair 14 (disorder)"
        },
        {
          "id": 539810,
          "code": "274908005",
          "description": "Deletion with complex rearrangement (disorder)"
        },
        {
          "id": 539811,
          "code": "27742002",
          "description": "Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder)"
        },
        {
          "id": 539812,
          "code": "281587000",
          "description": "Pentalogy of Cantrell (disorder)"
        },
        {
          "id": 539813,
          "code": "28557005",
          "description": "Geleophysic dysplasia (disorder)"
        },
        {
          "id": 539814,
          "code": "2884008",
          "description": "Weill-Marchesani syndrome (disorder)"
        },
        {
          "id": 539815,
          "code": "2893009",
          "description": "Anomaly of chromosome pair 10 (disorder)"
        },
        {
          "id": 539816,
          "code": "290006",
          "description": "Melnick-Fraser syndrome (disorder)"
        },
        {
          "id": 539817,
          "code": "29257000",
          "description": "13q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539818,
          "code": "29379007",
          "description": "8q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539819,
          "code": "30278004",
          "description": "Kundrat's syndrome (disorder)"
        },
        {
          "id": 539820,
          "code": "302960008",
          "description": "Mosaicism 45, X; 46, XX (disorder)"
        },
        {
          "id": 539821,
          "code": "30361005",
          "description": "1q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539822,
          "code": "3073006",
          "description": "Ruvalcaba syndrome (disorder)"
        },
        {
          "id": 539823,
          "code": "309776008",
          "description": "Costello syndrome (disorder)"
        },
        {
          "id": 539824,
          "code": "31080005",
          "description": "Pericarditis secondary to Mulibrey nanism (disorder)"
        },
        {
          "id": 539825,
          "code": "312214005",
          "description": "Floating-Harbor syndrome (disorder)"
        },
        {
          "id": 539826,
          "code": "31291009",
          "description": "Ectodermal dysplasia-ocular malformation syndrome (disorder)"
        },
        {
          "id": 539827,
          "code": "31325007",
          "description": "Ring chromosome 21 syndrome (disorder)"
        },
        {
          "id": 539828,
          "code": "313426007",
          "description": "Kabuki make-up syndrome (disorder)"
        },
        {
          "id": 539829,
          "code": "31981007",
          "description": "12p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539830,
          "code": "32107005",
          "description": "Anomaly of chromosome pair 17 (disorder)"
        },
        {
          "id": 539831,
          "code": "32299009",
          "description": "Anomaly of chromosome pair 2 (disorder)"
        },
        {
          "id": 539832,
          "code": "32985001",
          "description": "Greig cephalopolysyndactyly syndrome (disorder)"
        },
        {
          "id": 539833,
          "code": "33410002",
          "description": "Marshall syndrome (disorder)"
        },
        {
          "id": 539834,
          "code": "33706001",
          "description": "7q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539835,
          "code": "34748004",
          "description": "Adams-Oliver syndrome (disorder)"
        },
        {
          "id": 539836,
          "code": "35031005",
          "description": "Hanhart's syndrome (disorder)"
        },
        {
          "id": 539837,
          "code": "35111009",
          "description": "Trisomy X syndrome (disorder)"
        },
        {
          "id": 539838,
          "code": "36114005",
          "description": "Sex phenotype-karyotype dissociation syndrome (disorder)"
        },
        {
          "id": 539839,
          "code": "36193003",
          "description": "Thalidomide embryopathy syndrome (disorder)"
        },
        {
          "id": 539840,
          "code": "362984008",
          "description": "Anomaly of chromosome pair (disorder)"
        },
        {
          "id": 539841,
          "code": "36369001",
          "description": "1p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539842,
          "code": "36608002",
          "description": "16q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539843,
          "code": "371045000",
          "description": "Translocation Down syndrome (disorder)"
        },
        {
          "id": 539844,
          "code": "37367006",
          "description": "Anomaly of chromosome pair 7 (disorder)"
        },
        {
          "id": 539845,
          "code": "37506004",
          "description": "4q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539846,
          "code": "37535007",
          "description": "Anomaly of chromosome pair 12 (disorder)"
        },
        {
          "id": 539847,
          "code": "38215007",
          "description": "Oculodentodigital syndrome (disorder)"
        },
        {
          "id": 539848,
          "code": "38804009",
          "description": "Turner syndrome (disorder)"
        },
        {
          "id": 539849,
          "code": "389166003",
          "description": "Trichorhinophalangeal dysplasia type III (disorder)"
        },
        {
          "id": 539850,
          "code": "389171005",
          "description": "Yunis-Varon dysplasia (disorder)"
        },
        {
          "id": 539851,
          "code": "389277001",
          "description": "Scypho-patellar dysplasia (disorder)"
        },
        {
          "id": 539852,
          "code": "39788007",
          "description": "Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder)"
        },
        {
          "id": 539853,
          "code": "399340005",
          "description": "Hereditary nephritis (disorder)"
        },
        {
          "id": 539854,
          "code": "399947002",
          "description": "Progeroid short stature with pigmented nevi (disorder)"
        },
        {
          "id": 539855,
          "code": "400038003",
          "description": "Congenital malformation syndrome (disorder)"
        },
        {
          "id": 539856,
          "code": "401046009",
          "description": "Nicolaides-Baraitser syndrome (disorder)"
        },
        {
          "id": 539857,
          "code": "401138005",
          "description": "Pena-Shokeir syndrome type I (disorder)"
        },
        {
          "id": 539858,
          "code": "401315004",
          "description": "Smith-Magenis syndrome (disorder)"
        },
        {
          "id": 539859,
          "code": "40291001",
          "description": "Mietens syndrome (disorder)"
        },
        {
          "id": 539860,
          "code": "40354009",
          "description": "De Lange syndrome (disorder)"
        },
        {
          "id": 539861,
          "code": "403554008",
          "description": "Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye &amp; brain defects) (disorder)"
        },
        {
          "id": 539862,
          "code": "403756008",
          "description": "Aplasia cutis in Trisomy 13 syndrome (disorder)"
        },
        {
          "id": 539863,
          "code": "403757004",
          "description": "Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)"
        },
        {
          "id": 539864,
          "code": "403758009",
          "description": "CafÃ©-au-lait spots and ring chromosome 11 (disorder)"
        },
        {
          "id": 539865,
          "code": "403759001",
          "description": "Autosomal chromosomal disorder (disorder)"
        },
        {
          "id": 539866,
          "code": "403763008",
          "description": "Aplasia cutis in Johanson-Blizzard syndrome (disorder)"
        },
        {
          "id": 539867,
          "code": "403765001",
          "description": "Port-wine stain in Rubinstein-Taybi syndrome (disorder)"
        },
        {
          "id": 539868,
          "code": "403766000",
          "description": "Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)"
        },
        {
          "id": 539869,
          "code": "403767009",
          "description": "Acrocephalopolysyndactyly type II (disorder)"
        },
        {
          "id": 539870,
          "code": "403768004",
          "description": "Acrocephalopolysyndactyly type III (disorder)"
        },
        {
          "id": 539871,
          "code": "403769007",
          "description": "Cardio-acral-facial syndrome (disorder)"
        },
        {
          "id": 539872,
          "code": "403770008",
          "description": "Cardio-facio-cutaneous syndrome (disorder)"
        },
        {
          "id": 539873,
          "code": "403772000",
          "description": "Cleft palate lateral synechia syndrome (disorder)"
        },
        {
          "id": 539874,
          "code": "403773005",
          "description": "Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)"
        },
        {
          "id": 539875,
          "code": "403780007",
          "description": "Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)"
        },
        {
          "id": 539876,
          "code": "403781006",
          "description": "Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)"
        },
        {
          "id": 539877,
          "code": "403782004",
          "description": "Ichthyosis follicularis with alopecia and photophobia (disorder)"
        },
        {
          "id": 539878,
          "code": "403796005",
          "description": "Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder)"
        },
        {
          "id": 539879,
          "code": "403807001",
          "description": "Phylloid hypomelanosis (disorder)"
        },
        {
          "id": 539880,
          "code": "40389006",
          "description": "12q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539881,
          "code": "409709004",
          "description": "Chromosomal disorder (disorder)"
        },
        {
          "id": 539882,
          "code": "41040004",
          "description": "Complete trisomy 21 syndrome (disorder)"
        },
        {
          "id": 539883,
          "code": "41069008",
          "description": "Langer-Giedion syndrome (disorder)"
        },
        {
          "id": 539884,
          "code": "412787009",
          "description": "Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)"
        },
        {
          "id": 539885,
          "code": "41283003",
          "description": "Cerebro-oculo-facio-skeletal syndrome (disorder)"
        },
        {
          "id": 539886,
          "code": "4135001",
          "description": "11p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539887,
          "code": "413936007",
          "description": "Currarino triad (disorder)"
        },
        {
          "id": 539888,
          "code": "41443008",
          "description": "Multiple malformation syndrome with limb defect as major feature (disorder)"
        },
        {
          "id": 539889,
          "code": "41483000",
          "description": "Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)"
        },
        {
          "id": 539890,
          "code": "4199009",
          "description": "18p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539891,
          "code": "422437002",
          "description": "X-linked intellectual disability with marfanoid habitus (disorder)"
        },
        {
          "id": 539892,
          "code": "423095007",
          "description": "Congenital plagiocephaly with pelvic obliquity (disorder)"
        },
        {
          "id": 539893,
          "code": "4242009",
          "description": "18q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539894,
          "code": "42432003",
          "description": "Oto-palato-digital syndrome, type II (disorder)"
        },
        {
          "id": 539895,
          "code": "428113000",
          "description": "Autosomal aneuploidy (disorder)"
        },
        {
          "id": 539896,
          "code": "428850001",
          "description": "Li-Fraumeni syndrome (disorder)"
        },
        {
          "id": 539897,
          "code": "429442006",
          "description": "Autosomal duplication (disorder)"
        },
        {
          "id": 539898,
          "code": "429753001",
          "description": "Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)"
        },
        {
          "id": 539899,
          "code": "431395004",
          "description": "Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder)"
        },
        {
          "id": 539900,
          "code": "43248007",
          "description": "Penta X syndrome (disorder)"
        },
        {
          "id": 539901,
          "code": "4325000",
          "description": "11q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539902,
          "code": "43420005",
          "description": "9q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539903,
          "code": "439143004",
          "description": "Simpson-Golabi-Behmel syndrome (disorder)"
        },
        {
          "id": 539904,
          "code": "43929004",
          "description": "Smith-Lemli-Opitz syndrome (disorder)"
        },
        {
          "id": 539905,
          "code": "441944007",
          "description": "Oto-onycho-peroneal syndrome (disorder)"
        },
        {
          "id": 539906,
          "code": "44215001",
          "description": "Radiation chimera (disorder)"
        },
        {
          "id": 539907,
          "code": "444655009",
          "description": "Extra unidentified structurally abnormal chromosome (disorder)"
        },
        {
          "id": 539908,
          "code": "444858009",
          "description": "Unbalanced translocation of chromosome (disorder)"
        },
        {
          "id": 539909,
          "code": "445257004",
          "description": "Nance-Horan syndrome (disorder)"
        },
        {
          "id": 539910,
          "code": "445431000",
          "description": "Frasier syndrome (disorder)"
        },
        {
          "id": 539911,
          "code": "445580008",
          "description": "Familial extra unidentified structurally abnormal chromosome (disorder)"
        },
        {
          "id": 539912,
          "code": "446263001",
          "description": "Loeys-Dietz syndrome (disorder)"
        },
        {
          "id": 539913,
          "code": "44710007",
          "description": "Anomaly of chromosome pair 6 (disorder)"
        },
        {
          "id": 539914,
          "code": "448045004",
          "description": "Fragile X associated tremor ataxia syndrome (disorder)"
        },
        {
          "id": 539915,
          "code": "449817000",
          "description": "Peters plus syndrome (disorder)"
        },
        {
          "id": 539916,
          "code": "449818005",
          "description": "22q11 partial monosomy syndrome (disorder)"
        },
        {
          "id": 539917,
          "code": "449819002",
          "description": "3p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539918,
          "code": "449824004",
          "description": "Marden Walker syndrome (disorder)"
        },
        {
          "id": 539919,
          "code": "45525000",
          "description": "16q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539920,
          "code": "45582004",
          "description": "Rubinstein-Taybi syndrome (disorder)"
        },
        {
          "id": 539921,
          "code": "4602007",
          "description": "Robin sequence (disorder)"
        },
        {
          "id": 539922,
          "code": "47017007",
          "description": "Ring chromosome 1 syndrome (disorder)"
        },
        {
          "id": 539923,
          "code": "47535005",
          "description": "Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder)"
        },
        {
          "id": 539924,
          "code": "48082007",
          "description": "Anomaly of chromosome pair 8 (disorder)"
        },
        {
          "id": 539925,
          "code": "48637007",
          "description": "Multiple malformation syndrome with early overgrowth (disorder)"
        },
        {
          "id": 539926,
          "code": "4874006",
          "description": "11q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539927,
          "code": "48760005",
          "description": "10p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539928,
          "code": "48812004",
          "description": "17q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539929,
          "code": "49024004",
          "description": "4p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539930,
          "code": "49096008",
          "description": "Duhamel's syndrome (disorder)"
        },
        {
          "id": 539931,
          "code": "49984004",
          "description": "FG syndrome (disorder)"
        },
        {
          "id": 539932,
          "code": "5051002",
          "description": "Anomaly of chromosome pair 9 (disorder)"
        },
        {
          "id": 539933,
          "code": "50913002",
          "description": "Grob's syndrome (disorder)"
        },
        {
          "id": 539934,
          "code": "50992006",
          "description": "22q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539935,
          "code": "51409009",
          "description": "Asymmetric crying face association (disorder)"
        },
        {
          "id": 539936,
          "code": "51500006",
          "description": "Complete trisomy 18 syndrome (disorder)"
        },
        {
          "id": 539937,
          "code": "51780007",
          "description": "Cerebro-costo-mandibular syndrome (disorder)"
        },
        {
          "id": 539938,
          "code": "51819009",
          "description": "17p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539939,
          "code": "52616002",
          "description": "Freeman-Sheldon syndrome (disorder)"
        },
        {
          "id": 539940,
          "code": "52868006",
          "description": "Oral-facial-digital syndrome (disorder)"
        },
        {
          "id": 539941,
          "code": "53346000",
          "description": "Complete trisomy 20 syndrome (disorder)"
        },
        {
          "id": 539942,
          "code": "53392002",
          "description": "Anomaly of chromosome pair 16 (disorder)"
        },
        {
          "id": 539943,
          "code": "54036001",
          "description": "Oto-palato-digital syndrome, type I (disorder)"
        },
        {
          "id": 539944,
          "code": "54380006",
          "description": "Translocation syndrome (finding)"
        },
        {
          "id": 539945,
          "code": "548004",
          "description": "13p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539946,
          "code": "55016009",
          "description": "Congenital muscular hypertrophy-cerebral syndrome (disorder)"
        },
        {
          "id": 539947,
          "code": "554003",
          "description": "2p partial trisomy syndrome (disorder)"
        },
        {
          "id": 539948,
          "code": "5619004",
          "description": "Bardet-Biedl syndrome (disorder)"
        },
        {
          "id": 539949,
          "code": "56604005",
          "description": "Cohen syndrome (disorder)"
        },
        {
          "id": 539950,
          "code": "56653005",
          "description": "18p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539951,
          "code": "56677004",
          "description": "Pallister-Hall syndrome (disorder)"
        },
        {
          "id": 539952,
          "code": "57201002",
          "description": "Marfanoid joint hypermobility syndrome (disorder)"
        },
        {
          "id": 539953,
          "code": "57361003",
          "description": "Anomaly of chromosome pair 5 (disorder)"
        },
        {
          "id": 539954,
          "code": "57917004",
          "description": "Seckel syndrome (disorder)"
        },
        {
          "id": 539955,
          "code": "59033006",
          "description": "Anomaly of chromosome pair 18 (disorder)"
        },
        {
          "id": 539956,
          "code": "59252009",
          "description": "Cutis laxa-corneal clouding-oligophrenia syndrome (disorder)"
        },
        {
          "id": 539957,
          "code": "5982001",
          "description": "2q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539958,
          "code": "6002006",
          "description": "10p partial monosomy syndrome (disorder)"
        },
        {
          "id": 539959,
          "code": "60192008",
          "description": "Lethal multiple pterygium syndrome (disorder)"
        },
        {
          "id": 539960,
          "code": "60650002",
          "description": "Ring chromosome 9 syndrome (disorder)"
        },
        {
          "id": 539961,
          "code": "60891003",
          "description": "Anomaly of chromosome pair 11 (disorder)"
        },
        {
          "id": 539962,
          "code": "60922004",
          "description": "Heterologous chimera (disorder)"
        },
        {
          "id": 539963,
          "code": "613003",
          "description": "Fragile X syndrome (disorder)"
        },
        {
          "id": 539964,
          "code": "61870003",
          "description": "Homologous chimera (disorder)"
        },
        {
          "id": 539965,
          "code": "62964007",
          "description": "Antley-Bixler syndrome (disorder)"
        },
        {
          "id": 539966,
          "code": "62995000",
          "description": "15q partial monosomy syndrome (disorder)"
        },
        {
          "id": 539967,
          "code": "63119004",
          "description": "Weaver syndrome (disorder)"
        },
        {
          "id": 539968,
          "code": "63247009",
          "description": "Williams syndrome (disorder)"
        },
        {
          "id": 539969,
          "code": "63340009",
          "description": "Acephalocheiria (disorder)"
        },
        {
          "id": 539970,
          "code": "63702009",
          "description": "Alstrom syndrome (disorder)"
        },
        {
          "id": 539971,
          "code": "65094009",
          "description": "Multiple malformation syndrome with facial defects as major feature (disorder)"
        },
        {
          "id": 539972,
          "code": "66042003",
          "description": "Congenital hyperplasia of muscle (disorder)"
        },
        {
          "id": 539973,
          "code": "66651005",
          "description": "Triploidy syndrome (disorder)"
        },
        {
          "id": 539974,
          "code": "66783006",
          "description": "Popliteal pterygium syndrome (disorder)"
        },
        {
          "id": 539975,
          "code": "66985009",
          "description": "18q partial trisomy syndrome (disorder)"
        },
        {
          "id": 539976,
          "code": "6839008",
          "description": "Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, limb defects syndrome (disorder)"
        },
        {
          "id": 539977,
          "code": "68454002",
          "description": "Complete trisomy 8 syndrome (disorder)"
        },
        {
          "id": 539978,
          "code": "68551007",
          "description": "Limb reduction-ichthyosis syndrome (disorder)"
        },
        {
          "id": 539979,
          "code": "6936002",
          "description": "Cleft lip sequence (disorder)"
        },
        {
          "id": 539980,
          "code": "69408002",
          "description": "Gorlin syndrome (disorder)"
        },
        {
          "id": 539981,
          "code": "69664005",
          "description": "Ecchordosis physaliphora (disorder)"
        },
        {
          "id": 539982,
          "code": "698765007",
          "description": "Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)"
        },
        {
          "id": 539983,
          "code": "698766008",
          "description": "Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome (disorder)"
        },
        {
          "id": 539984,
          "code": "698849002",
          "description": "Tetrasomy 18p (disorder)"
        },
        {
          "id": 539985,
          "code": "698851003",
          "description": "SOX2 anophthalmia syndrome (disorder)"
        },
        {
          "id": 539986,
          "code": "699254009",
          "description": "Microdeletion of chromosome 15q13.3 (disorder)"
        },
        {
          "id": 539987,
          "code": "699297004",
          "description": "Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)"
        },
        {
          "id": 539988,
          "code": "699298009",
          "description": "Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)"
        },
        {
          "id": 539989,
          "code": "699300009",
          "description": "Oculofaciocardiodental syndrome (disorder)"
        },
        {
          "id": 539990,
          "code": "699305004",
          "description": "Microdeletion of chromosome 1q21.1 (disorder)"
        },
        {
          "id": 539991,
          "code": "699306003",
          "description": "Chromosome 1p36 deletion syndrome (disorder)"
        },
        {
          "id": 539992,
          "code": "699307007",
          "description": "Chromosome 16p11.2 deletion syndrome (disorder)"
        },
        {
          "id": 539993,
          "code": "699308002",
          "description": "Microdeletion of chromosome 15q24 (disorder)"
        },
        {
          "id": 539994,
          "code": "699310000",
          "description": "22q13.3 deletion syndrome (disorder)"
        },
        {
          "id": 539995,
          "code": "699311001",
          "description": "22q11.2 duplication (disorder)"
        },
        {
          "id": 539996,
          "code": "699316006",
          "description": "Myhre syndrome (disorder)"
        },
        {
          "id": 539997,
          "code": "699381006",
          "description": "Oculoskeletal dysplasia (disorder)"
        },
        {
          "id": 539998,
          "code": "699447001",
          "description": "Zimmermann-Laband syndrome (disorder)"
        },
        {
          "id": 539999,
          "code": "699669001",
          "description": "Renpenning syndrome (disorder)"
        },
        {
          "id": 540000,
          "code": "700056005",
          "description": "Mosaic variegated aneuploidy syndrome (disorder)"
        },
        {
          "id": 540001,
          "code": "700063005",
          "description": "Macrocephaly-capillary malformation (disorder)"
        },
        {
          "id": 540002,
          "code": "700489002",
          "description": "Sensorineural deafness and male infertility (disorder)"
        },
        {
          "id": 540003,
          "code": "70156005",
          "description": "Anomaly of chromosome pair 21 (disorder)"
        },
        {
          "id": 540004,
          "code": "70173007",
          "description": "5p partial monosomy syndrome (disorder)"
        },
        {
          "id": 540005,
          "code": "702342007",
          "description": "Dolichospondylic dysplasia (disorder)"
        },
        {
          "id": 540006,
          "code": "702344008",
          "description": "Pitt-Hopkins syndrome (disorder)"
        },
        {
          "id": 540007,
          "code": "702345009",
          "description": "Ring chromosome 14 syndrome (disorder)"
        },
        {
          "id": 540008,
          "code": "702346005",
          "description": "Chromosome 11p11.2 deletion syndrome (disorder)"
        },
        {
          "id": 540009,
          "code": "702354007",
          "description": "X-linked mental retardation syndrome, Christianson type (disorder)"
        },
        {
          "id": 540010,
          "code": "702357000",
          "description": "Chromosome 2q37 deletion syndrome (disorder)"
        },
        {
          "id": 540011,
          "code": "702360007",
          "description": "Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder)"
        },
        {
          "id": 540012,
          "code": "702362004",
          "description": "Craniofacial deafness hand syndrome (disorder)"
        },
        {
          "id": 540013,
          "code": "702367005",
          "description": "Genitopatellar syndrome (disorder)"
        },
        {
          "id": 540014,
          "code": "702384004",
          "description": "Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder)"
        },
        {
          "id": 540015,
          "code": "702407009",
          "description": "Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)"
        },
        {
          "id": 540016,
          "code": "702413000",
          "description": "RAPADILINO syndrome (disorder)"
        },
        {
          "id": 540017,
          "code": "702417004",
          "description": "Supernumerary der(22)t(11;22) syndrome (disorder)"
        },
        {
          "id": 540018,
          "code": "702418009",
          "description": "Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)"
        },
        {
          "id": 540019,
          "code": "702425002",
          "description": "Hand-foot-genital syndrome (disorder)"
        },
        {
          "id": 540020,
          "code": "702431004",
          "description": "Microcephaly-oculo-digito-esophageal-duodenal syndrome (disorder)"
        },
        {
          "id": 540021,
          "code": "702432006",
          "description": "Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)"
        },
        {
          "id": 540022,
          "code": "702816000",
          "description": "Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)"
        },
        {
          "id": 540023,
          "code": "702829000",
          "description": "Warsaw breakage syndrome (disorder)"
        },
        {
          "id": 540024,
          "code": "70324008",
          "description": "15q partial trisomy syndrome (disorder)"
        },
        {
          "id": 540025,
          "code": "703369003",
          "description": "Microcephaly-capillary malformation syndrome (disorder)"
        },
        {
          "id": 540026,
          "code": "703388005",
          "description": "Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder)"
        },
        {
          "id": 540027,
          "code": "703403003",
          "description": "Ophthalmo-acromelic syndrome (disorder)"
        },
        {
          "id": 540028,
          "code": "703406006",
          "description": "Trichohepatoenteric syndrome (disorder)"
        },
        {
          "id": 540029,
          "code": "703508009",
          "description": "Ear, patella, short stature syndrome (disorder)"
        },
        {
          "id": 540030,
          "code": "703523004",
          "description": "Spondyloenchondrodysplasia with immune dysregulation (disorder)"
        },
        {
          "id": 540031,
          "code": "703528008",
          "description": "Cutis gyrata syndrome of Beare and Stevenson (disorder)"
        },
        {
          "id": 540032,
          "code": "703534001",
          "description": "Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder)"
        },
        {
          "id": 540033,
          "code": "703539006",
          "description": "Manitoba oculotrichoanal syndrome (disorder)"
        },
        {
          "id": 540034,
          "code": "703973009",
          "description": "First and second branchial arch syndrome (disorder)"
        },
        {
          "id": 540035,
          "code": "70410008",
          "description": "Acrocephalosyndactyly type V (disorder)"
        },
        {
          "id": 540036,
          "code": "70452003",
          "description": "Anomaly of chromosome pair 22 (disorder)"
        },
        {
          "id": 540037,
          "code": "707276009",
          "description": "Hoyeraal-Hreidarsson syndrome (disorder)"
        },
        {
          "id": 540038,
          "code": "709105005",
          "description": "Jackson-Weiss syndrome (disorder)"
        },
        {
          "id": 540039,
          "code": "709418005",
          "description": "Autosomal translocation (disorder)"
        },
        {
          "id": 540040,
          "code": "709466003",
          "description": "Periodontitis co-occurrent with Cohen syndrome (disorder)"
        },
        {
          "id": 540041,
          "code": "709469005",
          "description": "Periodontitis co-occurrent with Down syndrome (disorder)"
        },
        {
          "id": 540042,
          "code": "709490002",
          "description": "Desmosterolosis (disorder)"
        },
        {
          "id": 540043,
          "code": "710008008",
          "description": "Monosomy X (disorder)"
        },
        {
          "id": 540044,
          "code": "710010005",
          "description": "Mosaic Turner syndrome (disorder)"
        },
        {
          "id": 540045,
          "code": "710019006",
          "description": "Mosaicism 45, X or other cell line with abnormal sex chromosome (disorder)"
        },
        {
          "id": 540363,
          "code": "721076000",
          "description": "Siegler Brewer Carey syndrome (disorder)"
        },
        {
          "id": 540046,
          "code": "711156009",
          "description": "Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)"
        },
        {
          "id": 540047,
          "code": "711157000",
          "description": "Sudden infant death with dysgenesis of testes syndrome (disorder)"
        },
        {
          "id": 540048,
          "code": "711489004",
          "description": "9q22.3 deletion syndrome (disorder)"
        },
        {
          "id": 540049,
          "code": "711543008",
          "description": "Mandibulofacial dysostosis with microcephaly (disorder)"
        },
        {
          "id": 540050,
          "code": "715215007",
          "description": "Chromosome 11p13 deletion syndrome (disorder)"
        },
        {
          "id": 540051,
          "code": "715344006",
          "description": "Neurofibromatosis Noonan syndrome (disorder)"
        },
        {
          "id": 540052,
          "code": "715409005",
          "description": "Trigonocephaly C syndrome (disorder)"
        },
        {
          "id": 540053,
          "code": "715421009",
          "description": "Craniofrontonasal dysplasia (disorder)"
        },
        {
          "id": 540054,
          "code": "715427008",
          "description": "Acromelic frontonasal dysplasia (disorder)"
        },
        {
          "id": 540055,
          "code": "715428003",
          "description": "Skeletal dysplasia with epilepsy and short stature syndrome (disorder)"
        },
        {
          "id": 540056,
          "code": "715438008",
          "description": "Distal partial deletion of long arm of chromosome 11 (disorder)"
        },
        {
          "id": 540057,
          "code": "715440003",
          "description": "Mirror hands and feet co-occurrent with nasal defect (disorder)"
        },
        {
          "id": 540058,
          "code": "715441004",
          "description": "McDonough syndrome (disorder)"
        },
        {
          "id": 540059,
          "code": "715464002",
          "description": "Microcephalus microcornea syndrome of Seemanova type (disorder)"
        },
        {
          "id": 540060,
          "code": "715482004",
          "description": "Microcephalic primordial dwarfism of Toriello type (disorder)"
        },
        {
          "id": 540061,
          "code": "715484003",
          "description": "Ophthalmomandibulomelic dysplasia (disorder)"
        },
        {
          "id": 540062,
          "code": "715487005",
          "description": "Autosomal recessive distal osteolysis syndrome (disorder)"
        },
        {
          "id": 540063,
          "code": "715506001",
          "description": "Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)"
        },
        {
          "id": 540064,
          "code": "715522000",
          "description": "Phocomelia Schinzel type (disorder)"
        },
        {
          "id": 540065,
          "code": "715523005",
          "description": "Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)"
        },
        {
          "id": 540066,
          "code": "715530004",
          "description": "Tetrasomy 9p syndrome (disorder)"
        },
        {
          "id": 540067,
          "code": "715533002",
          "description": "Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)"
        },
        {
          "id": 540068,
          "code": "715535009",
          "description": "Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder)"
        },
        {
          "id": 540069,
          "code": "715628009",
          "description": "Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)"
        },
        {
          "id": 540070,
          "code": "715653007",
          "description": "Spondyloocular syndrome (disorder)"
        },
        {
          "id": 540071,
          "code": "715735007",
          "description": "Maternal uniparental disomy of chromosome 20 (disorder)"
        },
        {
          "id": 540072,
          "code": "715736008",
          "description": "Paternal uniparental disomy of chromosome 20 (disorder)"
        },
        {
          "id": 540073,
          "code": "715867000",
          "description": "Pseudoaminopterin syndrome (disorder)"
        },
        {
          "id": 540074,
          "code": "715951007",
          "description": "Acrocallosal syndrome (disorder)"
        },
        {
          "id": 540075,
          "code": "715952000",
          "description": "Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)"
        },
        {
          "id": 540076,
          "code": "715983001",
          "description": "Ring chromosome 8 syndrome (disorder)"
        },
        {
          "id": 540077,
          "code": "715986009",
          "description": "Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)"
        },
        {
          "id": 540078,
          "code": "715991005",
          "description": "Crane Heise syndrome (disorder)"
        },
        {
          "id": 540079,
          "code": "716007007",
          "description": "Cleft palate and cleft lip with deafness and sacral lipoma syndrome (disorder)"
        },
        {
          "id": 540080,
          "code": "716023007",
          "description": "Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)"
        },
        {
          "id": 540081,
          "code": "716024001",
          "description": "Goniodysgenesis with intellectual disability and short stature syndrome (disorder)"
        },
        {
          "id": 540082,
          "code": "716089008",
          "description": "Craniofacial digital and genital anomalies syndrome (disorder)"
        },
        {
          "id": 540083,
          "code": "716090004",
          "description": "Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)"
        },
        {
          "id": 540084,
          "code": "716091000",
          "description": "Holoprosencephaly and postaxial polydactyly syndrome (disorder)"
        },
        {
          "id": 540085,
          "code": "716092007",
          "description": "Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)"
        },
        {
          "id": 540086,
          "code": "716094008",
          "description": "Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)"
        },
        {
          "id": 540087,
          "code": "716096005",
          "description": "Hypospadias and intellectual disability syndrome Goldblatt type (disorder)"
        },
        {
          "id": 540088,
          "code": "716097001",
          "description": "Ichthyosis cheek eyebrow syndrome (disorder)"
        },
        {
          "id": 540089,
          "code": "716106000",
          "description": "Limb body wall complex (disorder)"
        },
        {
          "id": 540090,
          "code": "716108004",
          "description": "Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)"
        },
        {
          "id": 540091,
          "code": "716110002",
          "description": "Upper limb defect with eye and ear abnormalities syndrome (disorder)"
        },
        {
          "id": 540092,
          "code": "716111003",
          "description": "Mullerian duct and limb anomalies syndrome (disorder)"
        },
        {
          "id": 540093,
          "code": "716112005",
          "description": "Microcephaly with deafness and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540094,
          "code": "716169009",
          "description": "Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)"
        },
        {
          "id": 540095,
          "code": "716170005",
          "description": "Deafness with cataract and skeletal anomaly syndrome (disorder)"
        },
        {
          "id": 540096,
          "code": "716180009",
          "description": "Odontoma dysphagia syndrome (disorder)"
        },
        {
          "id": 540097,
          "code": "716189005",
          "description": "Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)"
        },
        {
          "id": 540098,
          "code": "716191002",
          "description": "Alopecia and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540099,
          "code": "716192009",
          "description": "Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540100,
          "code": "716193004",
          "description": "Short stature with valvular heart disease and characteristic facies syndrome (disorder)"
        },
        {
          "id": 540101,
          "code": "716194005",
          "description": "Pili torti with developmental delay and neurological abnormality syndrome (disorder)"
        },
        {
          "id": 540102,
          "code": "716198008",
          "description": "Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)"
        },
        {
          "id": 540103,
          "code": "716199000",
          "description": "Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)"
        },
        {
          "id": 540104,
          "code": "716230005",
          "description": "Shprintzen Goldberg omphalocele syndrome (disorder)"
        },
        {
          "id": 540105,
          "code": "716233007",
          "description": "Steinfeld syndrome (disorder)"
        },
        {
          "id": 540106,
          "code": "716238003",
          "description": "Deafness with epiphyseal dysplasia and short stature syndrome (disorder)"
        },
        {
          "id": 540107,
          "code": "716243005",
          "description": "Deafness with malformation of ear and facial palsy syndrome (disorder)"
        },
        {
          "id": 540108,
          "code": "716245003",
          "description": "Deafness craniofacial syndrome (disorder)"
        },
        {
          "id": 540109,
          "code": "716249009",
          "description": "Tetraamelia with multiple malformation syndrome (disorder)"
        },
        {
          "id": 540110,
          "code": "716334004",
          "description": "Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)"
        },
        {
          "id": 540111,
          "code": "716337006",
          "description": "Seaver Cassidy syndrome (disorder)"
        },
        {
          "id": 540112,
          "code": "716381003",
          "description": "8p23.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540113,
          "code": "716387004",
          "description": "2q31.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540114,
          "code": "716456000",
          "description": "3q29 microdeletion syndrome (disorder)"
        },
        {
          "id": 540115,
          "code": "716515000",
          "description": "1q41q42 microdeletion syndrome (disorder)"
        },
        {
          "id": 540116,
          "code": "716683005",
          "description": "17q21.31 microduplication syndrome (disorder)"
        },
        {
          "id": 540117,
          "code": "716708005",
          "description": "FRAXF syndrome (disorder)"
        },
        {
          "id": 540118,
          "code": "716709002",
          "description": "FRAXE intellectual disability syndrome (disorder)"
        },
        {
          "id": 540119,
          "code": "716740009",
          "description": "Potter sequence cleft lip and palate cardiopathy syndrome (disorder)"
        },
        {
          "id": 540120,
          "code": "716862002",
          "description": "Proteus like syndrome (disorder)"
        },
        {
          "id": 540121,
          "code": "716868003",
          "description": "Multicentric osteolysis nodulosis arthropathy spectrum (disorder)"
        },
        {
          "id": 540122,
          "code": "71703005",
          "description": "Complete trisomy 22 syndrome (disorder)"
        },
        {
          "id": 540123,
          "code": "717049005",
          "description": "Trisomy 17p (disorder)"
        },
        {
          "id": 540124,
          "code": "717157006",
          "description": "Trisomy 10p (disorder)"
        },
        {
          "id": 540125,
          "code": "717335009",
          "description": "Mosaic trisomy 8 syndrome (disorder)"
        },
        {
          "id": 540126,
          "code": "717337001",
          "description": "Syndromic hypoplasia of orbital border (disorder)"
        },
        {
          "id": 540127,
          "code": "717338006",
          "description": "Koolen De Vries syndrome (disorder)"
        },
        {
          "id": 540128,
          "code": "717633007",
          "description": "Distal monosomy 1q (disorder)"
        },
        {
          "id": 540129,
          "code": "717763008",
          "description": "Chudley Lowry Hoar syndrome (disorder)"
        },
        {
          "id": 540130,
          "code": "717765001",
          "description": "Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)"
        },
        {
          "id": 540131,
          "code": "717766000",
          "description": "Alport syndrome autosomal dominant (disorder)"
        },
        {
          "id": 540132,
          "code": "717767009",
          "description": "Alport syndrome autosomal recessive (disorder)"
        },
        {
          "id": 540133,
          "code": "717768004",
          "description": "Alport syndrome X-linked (disorder)"
        },
        {
          "id": 540134,
          "code": "717771007",
          "description": "Cloverleaf skull with multiple congenital anomalies syndrome (disorder)"
        },
        {
          "id": 540135,
          "code": "717772000",
          "description": "Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)"
        },
        {
          "id": 540136,
          "code": "717785002",
          "description": "Coloboma of macula with brachydactyly type B syndrome (disorder)"
        },
        {
          "id": 540137,
          "code": "717812000",
          "description": "Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)"
        },
        {
          "id": 540138,
          "code": "717813005",
          "description": "Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)"
        },
        {
          "id": 540139,
          "code": "717822006",
          "description": "Goldberg Shprintzen megacolon syndrome (disorder)"
        },
        {
          "id": 540140,
          "code": "717824007",
          "description": "Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)"
        },
        {
          "id": 540141,
          "code": "717859007",
          "description": "Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)"
        },
        {
          "id": 540142,
          "code": "717887003",
          "description": "Biemond syndrome type 2 (disorder)"
        },
        {
          "id": 540143,
          "code": "717909004",
          "description": "Bilateral microtia with deafness and cleft palate syndrome (disorder)"
        },
        {
          "id": 540144,
          "code": "717911008",
          "description": "Blepharocheilodontic syndrome (disorder)"
        },
        {
          "id": 540145,
          "code": "717913006",
          "description": "Blepharonasofacial malformation syndrome (disorder)"
        },
        {
          "id": 540146,
          "code": "717914000",
          "description": "Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)"
        },
        {
          "id": 540147,
          "code": "717920004",
          "description": "Blindness, scoliosis, arachnodactyly syndrome (disorder)"
        },
        {
          "id": 540148,
          "code": "717940006",
          "description": "Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)"
        },
        {
          "id": 540149,
          "code": "717943008",
          "description": "Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)"
        },
        {
          "id": 540150,
          "code": "717944002",
          "description": "Branchiogenic deafness syndrome (disorder)"
        },
        {
          "id": 540632,
          "code": "733606001",
          "description": "Summitt syndrome (disorder)"
        },
        {
          "id": 540151,
          "code": "717945001",
          "description": "Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)"
        },
        {
          "id": 540152,
          "code": "717973004",
          "description": "Chromosome 3q29 duplication syndrome (disorder)"
        },
        {
          "id": 540153,
          "code": "718095000",
          "description": "Schisis association syndrome (disorder)"
        },
        {
          "id": 540154,
          "code": "718188007",
          "description": "8p inverted duplication deletion syndrome (disorder)"
        },
        {
          "id": 540155,
          "code": "718189004",
          "description": "Recombinant chromosome 8 syndrome (disorder)"
        },
        {
          "id": 540156,
          "code": "718222000",
          "description": "Autosomal dominant popliteal pterygium syndrome (disorder)"
        },
        {
          "id": 540157,
          "code": "718226002",
          "description": "Wolf Hirschhorn syndrome (disorder)"
        },
        {
          "id": 540158,
          "code": "718227006",
          "description": "Proximal 16p11.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540159,
          "code": "718556007",
          "description": "Cranio-cerebello-cardiac dysplasia syndrome (disorder)"
        },
        {
          "id": 540160,
          "code": "718574003",
          "description": "Cleft palate with coloboma of eye and deafness syndrome (disorder)"
        },
        {
          "id": 540161,
          "code": "718575002",
          "description": "Ablepharon macrostomia syndrome (disorder)"
        },
        {
          "id": 540162,
          "code": "718576001",
          "description": "Hydrocephalus with cleft palate and joint contracture syndrome (disorder)"
        },
        {
          "id": 540163,
          "code": "718577005",
          "description": "X-linked intellectual disability Atkin type (disorder)"
        },
        {
          "id": 540164,
          "code": "718614004",
          "description": "Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder)"
        },
        {
          "id": 540165,
          "code": "718615003",
          "description": "8q21.11 microdeletion syndrome (disorder)"
        },
        {
          "id": 540166,
          "code": "718679004",
          "description": "Mammary digital nail syndrome (disorder)"
        },
        {
          "id": 540167,
          "code": "718680001",
          "description": "Oro-facial digital syndrome type 9 (disorder)"
        },
        {
          "id": 540168,
          "code": "718681002",
          "description": "Oro-facial digital syndrome type 11 (disorder)"
        },
        {
          "id": 540169,
          "code": "718687003",
          "description": "Distal monosomy 10q (disorder)"
        },
        {
          "id": 540170,
          "code": "718688008",
          "description": "Distal monosomy 6p (disorder)"
        },
        {
          "id": 540171,
          "code": "718689000",
          "description": "Distal trisomy 10q (disorder)"
        },
        {
          "id": 540172,
          "code": "718715007",
          "description": "Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder)"
        },
        {
          "id": 540173,
          "code": "718848000",
          "description": "Fried syndrome (disorder)"
        },
        {
          "id": 540174,
          "code": "718880003",
          "description": "Zellweger-like syndrome without peroxisomal anomaly (disorder)"
        },
        {
          "id": 540175,
          "code": "718881004",
          "description": "Chromosome Xq27.3q28 duplication syndrome (disorder)"
        },
        {
          "id": 540176,
          "code": "718896000",
          "description": "X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)"
        },
        {
          "id": 540177,
          "code": "718897009",
          "description": "X-linked intellectual disability Seemanova type (disorder)"
        },
        {
          "id": 540178,
          "code": "718900002",
          "description": "Syndromic X-linked intellectual disability type 11 (disorder)"
        },
        {
          "id": 540179,
          "code": "718905007",
          "description": "X-linked intellectual disability Shrimpton type (disorder)"
        },
        {
          "id": 540180,
          "code": "718908009",
          "description": "X-linked intellectual disability Siderius type (disorder)"
        },
        {
          "id": 540181,
          "code": "718909001",
          "description": "X-linked intellectual disability Stevenson type (disorder)"
        },
        {
          "id": 540182,
          "code": "718910006",
          "description": "X-linked intellectual disability Stocco Dos Santos type (disorder)"
        },
        {
          "id": 540183,
          "code": "718911005",
          "description": "X-linked intellectual disability Stoll type (disorder)"
        },
        {
          "id": 540184,
          "code": "718912003",
          "description": "X-linked intellectual disability Turner type (disorder)"
        },
        {
          "id": 540185,
          "code": "718914002",
          "description": "X-linked intellectual disability Van Esch type (disorder)"
        },
        {
          "id": 540186,
          "code": "719009006",
          "description": "X-linked intellectual disability Wilson type (disorder)"
        },
        {
          "id": 540187,
          "code": "719010001",
          "description": "X-linked intellectual disability Schimke type (disorder)"
        },
        {
          "id": 540188,
          "code": "719011002",
          "description": "X-linked intellectual disability Pai type (disorder)"
        },
        {
          "id": 540189,
          "code": "719012009",
          "description": "X-linked intellectual disability Miles Carpenter type (disorder)"
        },
        {
          "id": 540190,
          "code": "719013004",
          "description": "X-linked intellectual disability Cilliers type (disorder)"
        },
        {
          "id": 540191,
          "code": "719016007",
          "description": "X-linked intellectual disability Cantagrel type (disorder)"
        },
        {
          "id": 540192,
          "code": "719017003",
          "description": "X-linked intellectual disability Armfield type (disorder)"
        },
        {
          "id": 540193,
          "code": "719018008",
          "description": "X-linked intellectual disability Abidi type (disorder)"
        },
        {
          "id": 540194,
          "code": "719020006",
          "description": "Pallister W syndrome (disorder)"
        },
        {
          "id": 540195,
          "code": "719021005",
          "description": "DK phocomelia syndrome (disorder)"
        },
        {
          "id": 540196,
          "code": "719043002",
          "description": "Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder)"
        },
        {
          "id": 540197,
          "code": "719046005",
          "description": "12q14 microdeletion syndrome (disorder)"
        },
        {
          "id": 540198,
          "code": "719047001",
          "description": "14q11.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540199,
          "code": "719069008",
          "description": "Shprintzen Goldberg craniosynostosis syndrome (disorder)"
        },
        {
          "id": 540200,
          "code": "719097002",
          "description": "Branchioskeletogenital syndrome (disorder)"
        },
        {
          "id": 540201,
          "code": "719098007",
          "description": "Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder)"
        },
        {
          "id": 540202,
          "code": "719101006",
          "description": "Carpenter Waziri syndrome (disorder)"
        },
        {
          "id": 540203,
          "code": "719138006",
          "description": "X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)"
        },
        {
          "id": 540204,
          "code": "719140001",
          "description": "X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)"
        },
        {
          "id": 540205,
          "code": "719155005",
          "description": "X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540206,
          "code": "719156006",
          "description": "X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)"
        },
        {
          "id": 540207,
          "code": "719157002",
          "description": "X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)"
        },
        {
          "id": 540208,
          "code": "719160009",
          "description": "Syndromic X-linked intellectual disability type 7 (disorder)"
        },
        {
          "id": 540209,
          "code": "719161008",
          "description": "Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder)"
        },
        {
          "id": 540210,
          "code": "719211006",
          "description": "Sparse hair with short stature and skin anomaly syndrome (disorder)"
        },
        {
          "id": 540211,
          "code": "719212004",
          "description": "Smith Fineman Myers syndrome (disorder)"
        },
        {
          "id": 540212,
          "code": "719213009",
          "description": "Short stature Brussels type (disorder)"
        },
        {
          "id": 540213,
          "code": "719256004",
          "description": "Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)"
        },
        {
          "id": 540214,
          "code": "719257008",
          "description": "Lathosterolosis (disorder)"
        },
        {
          "id": 540215,
          "code": "719298001",
          "description": "Pelvis shoulder dysplasia (disorder)"
        },
        {
          "id": 540216,
          "code": "719299009",
          "description": "Pelviscapular dysplasia syndrome (disorder)"
        },
        {
          "id": 540217,
          "code": "719305006",
          "description": "Stapes ankylosis with broad thumb and toe syndrome (disorder)"
        },
        {
          "id": 540218,
          "code": "719378009",
          "description": "Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)"
        },
        {
          "id": 540219,
          "code": "719379001",
          "description": "Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)"
        },
        {
          "id": 540220,
          "code": "719380003",
          "description": "Microcephalus cardiomyopathy syndrome (disorder)"
        },
        {
          "id": 540221,
          "code": "719394002",
          "description": "Microcephalus cleft palate syndrome (disorder)"
        },
        {
          "id": 540222,
          "code": "719395001",
          "description": "Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder)"
        },
        {
          "id": 540223,
          "code": "719398004",
          "description": "Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)"
        },
        {
          "id": 540224,
          "code": "719400000",
          "description": "Lethal faciocardiomelic dysplasia (disorder)"
        },
        {
          "id": 540225,
          "code": "719427001",
          "description": "15q11q13 microduplication syndrome (disorder)"
        },
        {
          "id": 540226,
          "code": "719456001",
          "description": "Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)"
        },
        {
          "id": 540227,
          "code": "719466009",
          "description": "Cleft palate with short stature and vertebral anomaly syndrome (disorder)"
        },
        {
          "id": 540228,
          "code": "719468005",
          "description": "Cleft palate with stapes fixation and oligodontia syndrome (disorder)"
        },
        {
          "id": 540229,
          "code": "719475006",
          "description": "Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder)"
        },
        {
          "id": 540230,
          "code": "719574007",
          "description": "14q12 microdeletion syndrome (disorder)"
        },
        {
          "id": 540231,
          "code": "719575008",
          "description": "15q14 microdeletion syndrome (disorder)"
        },
        {
          "id": 540232,
          "code": "719576009",
          "description": "16p11.2p12.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540233,
          "code": "719577000",
          "description": "16p13.11 microdeletion syndrome (disorder)"
        },
        {
          "id": 540234,
          "code": "719578005",
          "description": "16p13.11 microduplication syndrome (disorder)"
        },
        {
          "id": 540235,
          "code": "719580004",
          "description": "16q24.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540236,
          "code": "719582007",
          "description": "17p13.3 microduplication syndrome (disorder)"
        },
        {
          "id": 540237,
          "code": "719583002",
          "description": "17q11.2 microduplication syndrome (disorder)"
        },
        {
          "id": 540238,
          "code": "719584008",
          "description": "17q23.1q23.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540239,
          "code": "719597005",
          "description": "19p13.12 microdeletion syndrome (disorder)"
        },
        {
          "id": 540240,
          "code": "719599008",
          "description": "19q13.11 microdeletion syndrome (disorder)"
        },
        {
          "id": 540241,
          "code": "719600006",
          "description": "1p21.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540242,
          "code": "719646006",
          "description": "8p11.2 deletion syndrome (disorder)"
        },
        {
          "id": 540243,
          "code": "719649004",
          "description": "1q44 microdeletion syndrome (disorder)"
        },
        {
          "id": 540244,
          "code": "719650004",
          "description": "20p12.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540245,
          "code": "719651000",
          "description": "2p15p16.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540246,
          "code": "719652007",
          "description": "2p21 microdeletion syndrome (disorder)"
        },
        {
          "id": 540247,
          "code": "719657001",
          "description": "2q23.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540248,
          "code": "719658006",
          "description": "2q24 microdeletion syndrome (disorder)"
        },
        {
          "id": 540249,
          "code": "719659003",
          "description": "2q32q33 microdeletion syndrome (disorder)"
        },
        {
          "id": 540250,
          "code": "719660008",
          "description": "4q21 microdeletion syndrome (disorder)"
        },
        {
          "id": 540251,
          "code": "719661007",
          "description": "5q14.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540252,
          "code": "719662000",
          "description": "6p22 microdeletion syndrome (disorder)"
        },
        {
          "id": 540253,
          "code": "719663005",
          "description": "6q25 microdeletion syndrome (disorder)"
        },
        {
          "id": 540254,
          "code": "719664004",
          "description": "8q22.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540255,
          "code": "719665003",
          "description": "5q35 microduplication syndrome (disorder)"
        },
        {
          "id": 540256,
          "code": "719666002",
          "description": "6q terminal deletion syndrome (disorder)"
        },
        {
          "id": 540257,
          "code": "719684000",
          "description": "8q12 microduplication syndrome (disorder)"
        },
        {
          "id": 540258,
          "code": "719685004",
          "description": "Absent thumb with short stature and immunodeficiency syndrome (disorder)"
        },
        {
          "id": 540259,
          "code": "719686003",
          "description": "Distal monosomy 10p (disorder)"
        },
        {
          "id": 540260,
          "code": "719687007",
          "description": "Gingival fibromatosis with facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540261,
          "code": "719800009",
          "description": "Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540262,
          "code": "719808002",
          "description": "Chromosome Xp11.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540263,
          "code": "719810000",
          "description": "X-linked intellectual disability with seizure and psoriasis syndrome (disorder)"
        },
        {
          "id": 540264,
          "code": "719811001",
          "description": "X-linked intellectual disability Cabezas type (disorder)"
        },
        {
          "id": 540265,
          "code": "719812008",
          "description": "X-linked intellectual disability with plagiocephaly syndrome (disorder)"
        },
        {
          "id": 540266,
          "code": "719819004",
          "description": "Xeroderma pigmentosum and Cockayne syndrome complex (disorder)"
        },
        {
          "id": 540267,
          "code": "719823007",
          "description": "Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)"
        },
        {
          "id": 540268,
          "code": "719824001",
          "description": "Vici syndrome (disorder)"
        },
        {
          "id": 540269,
          "code": "719825000",
          "description": "X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)"
        },
        {
          "id": 540270,
          "code": "719826004",
          "description": "X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)"
        },
        {
          "id": 540271,
          "code": "719833004",
          "description": "Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)"
        },
        {
          "id": 540272,
          "code": "719834005",
          "description": "Wilson Turner syndrome (disorder)"
        },
        {
          "id": 540273,
          "code": "719835006",
          "description": "Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder)"
        },
        {
          "id": 540274,
          "code": "719837003",
          "description": "X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder)"
        },
        {
          "id": 540275,
          "code": "719840003",
          "description": "Renal dysplasia with limb defect syndrome (disorder)"
        },
        {
          "id": 540276,
          "code": "719842006",
          "description": "Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540277,
          "code": "719845008",
          "description": "Van den Ende-Gupta syndrome (disorder)"
        },
        {
          "id": 540278,
          "code": "719909009",
          "description": "Chromosome Xq28 trisomy syndrome (disorder)"
        },
        {
          "id": 540279,
          "code": "719911000",
          "description": "Trichodysplasia with amelogenesis imperfecta syndrome (disorder)"
        },
        {
          "id": 540280,
          "code": "719944006",
          "description": "Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)"
        },
        {
          "id": 540281,
          "code": "719947004",
          "description": "Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder)"
        },
        {
          "id": 540282,
          "code": "719948009",
          "description": "Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)"
        },
        {
          "id": 540283,
          "code": "719949001",
          "description": "Trigonocephaly with broad thumb syndrome (disorder)"
        },
        {
          "id": 540284,
          "code": "720009004",
          "description": "Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)"
        },
        {
          "id": 540285,
          "code": "720410001",
          "description": "Acrootoocular syndrome (disorder)"
        },
        {
          "id": 540286,
          "code": "720414005",
          "description": "Acrorenal mandibular syndrome (disorder)"
        },
        {
          "id": 540287,
          "code": "720415006",
          "description": "Acrorenoocular syndrome (disorder)"
        },
        {
          "id": 540288,
          "code": "720417003",
          "description": "Acrocephalopolydactyly (disorder)"
        },
        {
          "id": 540289,
          "code": "720418008",
          "description": "Acrocraniofacial dysostosis (disorder)"
        },
        {
          "id": 540290,
          "code": "720419000",
          "description": "Acrofacial dysostosis Catania type (disorder)"
        },
        {
          "id": 540291,
          "code": "720427009",
          "description": "Acrofacial dysostosis Kennedy Teebi type (disorder)"
        },
        {
          "id": 540292,
          "code": "720429007",
          "description": "Acrofacial dysostosis Palagonia type (disorder)"
        },
        {
          "id": 540293,
          "code": "720430002",
          "description": "Acrofacial dysostosis Rodriguez type (disorder)"
        },
        {
          "id": 540294,
          "code": "720456009",
          "description": "Acromegaloid facial appearance syndrome (disorder)"
        },
        {
          "id": 540295,
          "code": "720458005",
          "description": "Acrorenal syndrome (disorder)"
        },
        {
          "id": 540296,
          "code": "720463009",
          "description": "Adducted thumbs and arthrogryposis syndrome Christian type (disorder)"
        },
        {
          "id": 540297,
          "code": "720464003",
          "description": "Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)"
        },
        {
          "id": 540298,
          "code": "720467005",
          "description": "Aniridia and absent patella syndrome (disorder)"
        },
        {
          "id": 540299,
          "code": "720494009",
          "description": "Anonychia with microcephaly syndrome (disorder)"
        },
        {
          "id": 540300,
          "code": "720495005",
          "description": "Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)"
        },
        {
          "id": 540301,
          "code": "720496006",
          "description": "Anophthalmia plus syndrome (disorder)"
        },
        {
          "id": 540302,
          "code": "720498007",
          "description": "Aphalangy and syndactyly with microcephaly syndrome (disorder)"
        },
        {
          "id": 540303,
          "code": "720501007",
          "description": "Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540304,
          "code": "720502000",
          "description": "Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540305,
          "code": "720511000",
          "description": "Arrhinia with choanal atresia and microphthalmia syndrome (disorder)"
        },
        {
          "id": 540306,
          "code": "720512007",
          "description": "Arterial dissection and lentiginosis syndrome (disorder)"
        },
        {
          "id": 540307,
          "code": "720514008",
          "description": "Arthrogryposis multiplex congenita and whistling face syndrome (disorder)"
        },
        {
          "id": 540308,
          "code": "720519003",
          "description": "Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)"
        },
        {
          "id": 540309,
          "code": "720565000",
          "description": "Bohring Opitz syndrome (disorder)"
        },
        {
          "id": 540310,
          "code": "720567008",
          "description": "Bosley Salih Alorainy syndrome (disorder)"
        },
        {
          "id": 540311,
          "code": "720573009",
          "description": "Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)"
        },
        {
          "id": 540312,
          "code": "720574003",
          "description": "Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)"
        },
        {
          "id": 540313,
          "code": "720575002",
          "description": "Braddock syndrome (disorder)"
        },
        {
          "id": 540314,
          "code": "720599002",
          "description": "Campomelia Cumming type (disorder)"
        },
        {
          "id": 540315,
          "code": "720600004",
          "description": "Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)"
        },
        {
          "id": 540316,
          "code": "720601000",
          "description": "Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)"
        },
        {
          "id": 540317,
          "code": "720602007",
          "description": "Camptodactyly syndrome Guadalajara type 1 (disorder)"
        },
        {
          "id": 540318,
          "code": "720603002",
          "description": "Camptodactyly syndrome Guadalajara type 2 (disorder)"
        },
        {
          "id": 540319,
          "code": "720606005",
          "description": "Cardiocranial syndrome Pfeiffer type (disorder)"
        },
        {
          "id": 540320,
          "code": "720610008",
          "description": "Cardiomyopathy and renal anomaly syndrome (disorder)"
        },
        {
          "id": 540321,
          "code": "720612000",
          "description": "Cardiospondylocarpofacial syndrome (disorder)"
        },
        {
          "id": 540322,
          "code": "720633009",
          "description": "Syndactyly type 7 (disorder)"
        },
        {
          "id": 540323,
          "code": "720634003",
          "description": "Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)"
        },
        {
          "id": 540324,
          "code": "720635002",
          "description": "Cerebro-facio-thoracic dysplasia (disorder)"
        },
        {
          "id": 540325,
          "code": "720636001",
          "description": "Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)"
        },
        {
          "id": 540326,
          "code": "720639008",
          "description": "Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)"
        },
        {
          "id": 540327,
          "code": "720640005",
          "description": "Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540328,
          "code": "720746006",
          "description": "Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)"
        },
        {
          "id": 540329,
          "code": "720748007",
          "description": "Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540330,
          "code": "720754008",
          "description": "Craniofacial conodysplasia syndrome (disorder)"
        },
        {
          "id": 540331,
          "code": "720755009",
          "description": "Craniofacial dyssynostosis syndrome (disorder)"
        },
        {
          "id": 540332,
          "code": "720756005",
          "description": "Craniofacial ulnar renal syndrome (disorder)"
        },
        {
          "id": 540333,
          "code": "720757001",
          "description": "Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)"
        },
        {
          "id": 540334,
          "code": "720812002",
          "description": "Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder)"
        },
        {
          "id": 540335,
          "code": "720815000",
          "description": "Capra DeMarco syndrome (disorder)"
        },
        {
          "id": 540336,
          "code": "720816004",
          "description": "Craniosynostosis and intracranial calcification syndrome (disorder)"
        },
        {
          "id": 540337,
          "code": "720818003",
          "description": "Craniosynostosis Philadelphia type (disorder)"
        },
        {
          "id": 540338,
          "code": "720819006",
          "description": "Curry Jones syndrome (disorder)"
        },
        {
          "id": 540339,
          "code": "720851007",
          "description": "Chondrodysplasia with disorder of sex development syndrome (disorder)"
        },
        {
          "id": 540340,
          "code": "720852000",
          "description": "Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)"
        },
        {
          "id": 540341,
          "code": "720855003",
          "description": "Cerebrooculonasal syndrome (disorder)"
        },
        {
          "id": 540342,
          "code": "720856002",
          "description": "Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)"
        },
        {
          "id": 540343,
          "code": "720954000",
          "description": "Filippi syndrome (disorder)"
        },
        {
          "id": 540344,
          "code": "720955004",
          "description": "Fine Lubinsky syndrome (disorder)"
        },
        {
          "id": 540345,
          "code": "720957007",
          "description": "Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)"
        },
        {
          "id": 540346,
          "code": "720958002",
          "description": "Frank-Ter Haar syndrome (disorder)"
        },
        {
          "id": 540347,
          "code": "720979002",
          "description": "Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540348,
          "code": "720980004",
          "description": "Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540349,
          "code": "720982007",
          "description": "Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)"
        },
        {
          "id": 540350,
          "code": "720986005",
          "description": "Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)"
        },
        {
          "id": 540351,
          "code": "720987001",
          "description": "Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)"
        },
        {
          "id": 540352,
          "code": "721007005",
          "description": "Hair defect with photosensitivity and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540353,
          "code": "721008000",
          "description": "Hall Riggs syndrome (disorder)"
        },
        {
          "id": 540354,
          "code": "721009008",
          "description": "Heart defect and limb shortening syndrome (disorder)"
        },
        {
          "id": 540355,
          "code": "721010003",
          "description": "Heart-hand syndrome type 2 (disorder)"
        },
        {
          "id": 540356,
          "code": "721013001",
          "description": "Heart-hand syndrome type 3 (disorder)"
        },
        {
          "id": 540357,
          "code": "721014007",
          "description": "Heart-hand syndrome Slovenian type (disorder)"
        },
        {
          "id": 540358,
          "code": "721015008",
          "description": "Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)"
        },
        {
          "id": 540359,
          "code": "721017000",
          "description": "Postaxial polydactyly and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540360,
          "code": "721072003",
          "description": "Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)"
        },
        {
          "id": 540361,
          "code": "721073008",
          "description": "Short stature with webbed neck and congenital heart disease syndrome (disorder)"
        },
        {
          "id": 540362,
          "code": "721075001",
          "description": "Short tarsus with absence of lower eyelashes syndrome (disorder)"
        },
        {
          "id": 540364,
          "code": "721084001",
          "description": "Deaf blind hypopigmentation syndrome Yemenite type (disorder)"
        },
        {
          "id": 540365,
          "code": "721086004",
          "description": "Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)"
        },
        {
          "id": 540366,
          "code": "721087008",
          "description": "Deafness and intellectual disability Martin Probst type syndrome (disorder)"
        },
        {
          "id": 540367,
          "code": "721089006",
          "description": "Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540368,
          "code": "721092005",
          "description": "Developmental malformation, deafness, dystonia syndrome (disorder)"
        },
        {
          "id": 540369,
          "code": "721095007",
          "description": "Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)"
        },
        {
          "id": 540370,
          "code": "721105004",
          "description": "Klippel Trenaunay syndrome (disorder)"
        },
        {
          "id": 540371,
          "code": "721146009",
          "description": "Intellectual disability, epilepsy, bulbous nose syndrome (disorder)"
        },
        {
          "id": 540372,
          "code": "721158009",
          "description": "Distal 5q deletion syndrome (disorder)"
        },
        {
          "id": 540373,
          "code": "721224008",
          "description": "Holmes Gang syndrome (disorder)"
        },
        {
          "id": 540374,
          "code": "721227001",
          "description": "Hunter McAlpine craniosynostosis syndrome (disorder)"
        },
        {
          "id": 540375,
          "code": "721229003",
          "description": "Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)"
        },
        {
          "id": 540376,
          "code": "721232000",
          "description": "Hydrolethalus syndrome (disorder)"
        },
        {
          "id": 540377,
          "code": "721584005",
          "description": "Johnson neuroectodermal syndrome (disorder)"
        },
        {
          "id": 540378,
          "code": "721835008",
          "description": "Acrofrontofacionasal dysostosis type 2 (disorder)"
        },
        {
          "id": 540379,
          "code": "721836009",
          "description": "Hypertelorism with microtia and facial clefting syndrome (disorder)"
        },
        {
          "id": 540380,
          "code": "721837000",
          "description": "Hypertrichosis and acromegaloid facial appearance syndrome (disorder)"
        },
        {
          "id": 540381,
          "code": "721841001",
          "description": "Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540382,
          "code": "721874001",
          "description": "Juberg Hayward syndrome (disorder)"
        },
        {
          "id": 540383,
          "code": "721875000",
          "description": "Juberg Marsidi syndrome (disorder)"
        },
        {
          "id": 540384,
          "code": "721881008",
          "description": "Microduplication Xp11.22p11.23 syndrome (disorder)"
        },
        {
          "id": 540385,
          "code": "721882001",
          "description": "Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder)"
        },
        {
          "id": 540386,
          "code": "721883006",
          "description": "Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)"
        },
        {
          "id": 540387,
          "code": "721887007",
          "description": "Puerto Rican infant hypotonia syndrome (disorder)"
        },
        {
          "id": 540388,
          "code": "721888002",
          "description": "Scalp, ear, nipple syndrome (disorder)"
        },
        {
          "id": 540389,
          "code": "721902002",
          "description": "Schilbach Rott syndrome (disorder)"
        },
        {
          "id": 540390,
          "code": "721903007",
          "description": "Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)"
        },
        {
          "id": 540391,
          "code": "721970009",
          "description": "Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)"
        },
        {
          "id": 540392,
          "code": "721972001",
          "description": "Limb mammary syndrome (disorder)"
        },
        {
          "id": 540393,
          "code": "721974000",
          "description": "Lowry MacLean syndrome (disorder)"
        },
        {
          "id": 540394,
          "code": "721975004",
          "description": "Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)"
        },
        {
          "id": 540395,
          "code": "721977007",
          "description": "Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)"
        },
        {
          "id": 540396,
          "code": "721978002",
          "description": "Lymphedema, atrial septal defect, facial changes syndrome (disorder)"
        },
        {
          "id": 540397,
          "code": "722002002",
          "description": "Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)"
        },
        {
          "id": 540398,
          "code": "722006004",
          "description": "Isotretinoin embryopathy-like syndrome (disorder)"
        },
        {
          "id": 540399,
          "code": "722019000",
          "description": "Oculootoradial syndrome (disorder)"
        },
        {
          "id": 540400,
          "code": "722031003",
          "description": "Kapur Toriello syndrome (disorder)"
        },
        {
          "id": 540401,
          "code": "722032005",
          "description": "Karsch Neugebauer syndrome (disorder)"
        },
        {
          "id": 540402,
          "code": "722035007",
          "description": "Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)"
        },
        {
          "id": 540403,
          "code": "722037004",
          "description": "Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder)"
        },
        {
          "id": 540404,
          "code": "722051004",
          "description": "Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)"
        },
        {
          "id": 540405,
          "code": "722055008",
          "description": "Oculopalatocerebral syndrome (disorder)"
        },
        {
          "id": 540406,
          "code": "722056009",
          "description": "Oculocerebrofacial syndrome Kaufman type (disorder)"
        },
        {
          "id": 540407,
          "code": "722061006",
          "description": "Oculoosteocutaneous syndrome (disorder)"
        },
        {
          "id": 540408,
          "code": "722063009",
          "description": "Odonto-tricho-ungual-digito-palmar syndrome (disorder)"
        },
        {
          "id": 540409,
          "code": "722065002",
          "description": "Okamoto syndrome (disorder)"
        },
        {
          "id": 540410,
          "code": "722075004",
          "description": "Oro-facial digital syndrome type 10 (disorder)"
        },
        {
          "id": 540411,
          "code": "722105002",
          "description": "Oro-facial digital syndrome type 5 (disorder)"
        },
        {
          "id": 540412,
          "code": "722106001",
          "description": "Oro-facial digital syndrome type 8 (disorder)"
        },
        {
          "id": 540413,
          "code": "722110003",
          "description": "Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540414,
          "code": "722111004",
          "description": "Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540415,
          "code": "722122000",
          "description": "Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540416,
          "code": "722132007",
          "description": "Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)"
        },
        {
          "id": 540417,
          "code": "722201004",
          "description": "Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)"
        },
        {
          "id": 540418,
          "code": "722206009",
          "description": "Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)"
        },
        {
          "id": 540419,
          "code": "722211006",
          "description": "Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)"
        },
        {
          "id": 540420,
          "code": "722231005",
          "description": "Perlman syndrome (disorder)"
        },
        {
          "id": 540421,
          "code": "722281001",
          "description": "Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)"
        },
        {
          "id": 540422,
          "code": "722282008",
          "description": "Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)"
        },
        {
          "id": 540423,
          "code": "722283003",
          "description": "Agnathia, holoprosencephaly, situs inversus syndrome (disorder)"
        },
        {
          "id": 540424,
          "code": "722376008",
          "description": "Autosomal recessive popliteal pterygium syndrome (disorder)"
        },
        {
          "id": 540425,
          "code": "722381004",
          "description": "Congenital cataract, nephropathy, encephalopathy syndrome (disorder)"
        },
        {
          "id": 540426,
          "code": "722383001",
          "description": "Catel Manzke syndrome (disorder)"
        },
        {
          "id": 540427,
          "code": "722389002",
          "description": "Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)"
        },
        {
          "id": 540428,
          "code": "722390006",
          "description": "Congenital intrauterine infection-like syndrome (disorder)"
        },
        {
          "id": 540429,
          "code": "722429003",
          "description": "Distal limb deficiency with micrognathia syndrome (disorder)"
        },
        {
          "id": 540430,
          "code": "722430008",
          "description": "Distal trisomy 6p syndrome (disorder)"
        },
        {
          "id": 540431,
          "code": "722432000",
          "description": "Duane anomaly, myopathy, scoliosis syndrome (disorder)"
        },
        {
          "id": 540432,
          "code": "722433005",
          "description": "Dyschondrosteosis and nephritis syndrome (disorder)"
        },
        {
          "id": 540433,
          "code": "722450007",
          "description": "Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)"
        },
        {
          "id": 540434,
          "code": "722452004",
          "description": "Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)"
        },
        {
          "id": 540435,
          "code": "722454003",
          "description": "Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)"
        },
        {
          "id": 540436,
          "code": "722455002",
          "description": "Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)"
        },
        {
          "id": 540437,
          "code": "722459008",
          "description": "Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)"
        },
        {
          "id": 540438,
          "code": "722461004",
          "description": "Meacham syndrome (disorder)"
        },
        {
          "id": 540439,
          "code": "722463001",
          "description": "Macular coloboma, cleft palate, hallux valgus syndrome (disorder)"
        },
        {
          "id": 540440,
          "code": "722477003",
          "description": "Toriello Carey syndrome (disorder)"
        },
        {
          "id": 540441,
          "code": "722478008",
          "description": "Skeletal dysplasia with intellectual disability syndrome (disorder)"
        },
        {
          "id": 540442,
          "code": "722493007",
          "description": "Familial caudal dysgenesis (disorder)"
        },
        {
          "id": 540443,
          "code": "722980006",
          "description": "Dementia due to chromosomal anomaly (disorder)"
        },
        {
          "id": 540444,
          "code": "723304001",
          "description": "Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)"
        },
        {
          "id": 540445,
          "code": "723309006",
          "description": "Endocrine-cerebro-osteodysplasia syndrome (disorder)"
        },
        {
          "id": 540446,
          "code": "723332005",
          "description": "Isodicentric chromosome 15 syndrome (disorder)"
        },
        {
          "id": 540447,
          "code": "723333000",
          "description": "Faciocardiorenal syndrome (disorder)"
        },
        {
          "id": 540448,
          "code": "723336008",
          "description": "Fallot complex with intellectual disability and growth delay syndrome (disorder)"
        },
        {
          "id": 540449,
          "code": "723366001",
          "description": "Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)"
        },
        {
          "id": 540450,
          "code": "723403008",
          "description": "Microbrachycephaly, ptosis, cleft lip syndrome (disorder)"
        },
        {
          "id": 540451,
          "code": "723409007",
          "description": "Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)"
        },
        {
          "id": 540452,
          "code": "723410002",
          "description": "N syndrome (disorder)"
        },
        {
          "id": 540453,
          "code": "723444009",
          "description": "Noonan syndrome-like disorder with loose anagen hair (disorder)"
        },
        {
          "id": 540454,
          "code": "723448007",
          "description": "Polyvalvular heart disease syndrome (disorder)"
        },
        {
          "id": 540455,
          "code": "723453002",
          "description": "Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)"
        },
        {
          "id": 540456,
          "code": "723461007",
          "description": "Pierre Robin sequence faciodigital anomaly syndrome (disorder)"
        },
        {
          "id": 540457,
          "code": "723501008",
          "description": "Renier Gabreels Jasper syndrome (disorder)"
        },
        {
          "id": 540458,
          "code": "723504000",
          "description": "Ramos Arroyo syndrome (disorder)"
        },
        {
          "id": 540459,
          "code": "723555007",
          "description": "Thymic, renal, anal, lung dysplasia syndrome (disorder)"
        },
        {
          "id": 540460,
          "code": "723578001",
          "description": "Terminal osseous dysplasia and pigmentary defect syndrome (disorder)"
        },
        {
          "id": 540461,
          "code": "723581006",
          "description": "Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)"
        },
        {
          "id": 540462,
          "code": "723610009",
          "description": "Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)"
        },
        {
          "id": 540463,
          "code": "723611008",
          "description": "Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder)"
        },
        {
          "id": 540464,
          "code": "723676007",
          "description": "Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)"
        },
        {
          "id": 540465,
          "code": "723720008",
          "description": "Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)"
        },
        {
          "id": 540466,
          "code": "723827003",
          "description": "Grant syndrome (disorder)"
        },
        {
          "id": 540467,
          "code": "723830005",
          "description": "Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)"
        },
        {
          "id": 540468,
          "code": "723973002",
          "description": "Sirenomelus (disorder)"
        },
        {
          "id": 540469,
          "code": "723991007",
          "description": "Angio-osteohypertrophic syndrome (disorder)"
        },
        {
          "id": 540470,
          "code": "723998001",
          "description": "Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)"
        },
        {
          "id": 540471,
          "code": "724000006",
          "description": "Retinohepatoendocrinologic syndrome (disorder)"
        },
        {
          "id": 540472,
          "code": "724001005",
          "description": "Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)"
        },
        {
          "id": 540473,
          "code": "724016008",
          "description": "Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)"
        },
        {
          "id": 540474,
          "code": "724064004",
          "description": "Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)"
        },
        {
          "id": 540475,
          "code": "724066002",
          "description": "Polysyndactyly and cardiac malformation syndrome (disorder)"
        },
        {
          "id": 540476,
          "code": "724069009",
          "description": "Patterson Stevenson Fontaine syndrome (disorder)"
        },
        {
          "id": 540477,
          "code": "724070005",
          "description": "Paternal 20q13.2q13.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540478,
          "code": "724092009",
          "description": "Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)"
        },
        {
          "id": 540479,
          "code": "724093004",
          "description": "Nephropathy, deafness, hyperparathyroidism syndrome (disorder)"
        },
        {
          "id": 540480,
          "code": "724098008",
          "description": "Monosomy 9q22.3 syndrome (disorder)"
        },
        {
          "id": 540481,
          "code": "724137002",
          "description": "Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)"
        },
        {
          "id": 540482,
          "code": "724140002",
          "description": "Microspherophakia with metaphyseal dysplasia syndrome (disorder)"
        },
        {
          "id": 540483,
          "code": "724141003",
          "description": "Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)"
        },
        {
          "id": 540484,
          "code": "724147004",
          "description": "8q13 microdeletion syndrome (disorder)"
        },
        {
          "id": 540485,
          "code": "724174003",
          "description": "Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)"
        },
        {
          "id": 540486,
          "code": "724207001",
          "description": "Kleefstra syndrome (disorder)"
        },
        {
          "id": 540487,
          "code": "724208006",
          "description": "Keutel syndrome (disorder)"
        },
        {
          "id": 540488,
          "code": "724281002",
          "description": "Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)"
        },
        {
          "id": 540489,
          "code": "724284005",
          "description": "Hypertelorism Teebi type (disorder)"
        },
        {
          "id": 540490,
          "code": "724643004",
          "description": "Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder)"
        },
        {
          "id": 540491,
          "code": "724644005",
          "description": "Myeloid leukemia co-occurrent with Down syndrome (disorder)"
        },
        {
          "id": 540492,
          "code": "725029001",
          "description": "Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)"
        },
        {
          "id": 540493,
          "code": "725030006",
          "description": "Familial scaphocephaly syndrome McGillivray type (disorder)"
        },
        {
          "id": 540494,
          "code": "725084009",
          "description": "Sex chromosome aneuploidy (disorder)"
        },
        {
          "id": 540495,
          "code": "725096002",
          "description": "Cryptomicrotia brachydactyly syndrome (disorder)"
        },
        {
          "id": 540496,
          "code": "725098001",
          "description": "Craniomicromelic syndrome (disorder)"
        },
        {
          "id": 540497,
          "code": "725138002",
          "description": "Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)"
        },
        {
          "id": 540498,
          "code": "725140007",
          "description": "Temple Baraitser syndrome (disorder)"
        },
        {
          "id": 540499,
          "code": "725149008",
          "description": "Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder)"
        },
        {
          "id": 540500,
          "code": "725434009",
          "description": "Autosomal recessive faciodigitogenital syndrome (disorder)"
        },
        {
          "id": 540501,
          "code": "725461009",
          "description": "Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)"
        },
        {
          "id": 540502,
          "code": "725906006",
          "description": "Intellectual disability Buenos Aires type (disorder)"
        },
        {
          "id": 540503,
          "code": "725908007",
          "description": "Neurofaciodigitorenal syndrome (disorder)"
        },
        {
          "id": 540504,
          "code": "725911008",
          "description": "Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)"
        },
        {
          "id": 540505,
          "code": "725912001",
          "description": "X-linked intellectual disability Brooks type (disorder)"
        },
        {
          "id": 540506,
          "code": "726083008",
          "description": "Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)"
        },
        {
          "id": 540507,
          "code": "726106004",
          "description": "X-linked diffuse leiomyomatosis with Alport syndrome (disorder)"
        },
        {
          "id": 540508,
          "code": "726338000",
          "description": "Partial trisomy of chromosome 1 (disorder)"
        },
        {
          "id": 540509,
          "code": "726339008",
          "description": "Partial trisomy of short arm of chromosome 1 (disorder)"
        },
        {
          "id": 540510,
          "code": "726340005",
          "description": "Partial trisomy of chromosome 2 (disorder)"
        },
        {
          "id": 540511,
          "code": "726341009",
          "description": "Partial trisomy of chromosome 3 (disorder)"
        },
        {
          "id": 540512,
          "code": "726342002",
          "description": "Partial trisomy of chromosome 4 (disorder)"
        },
        {
          "id": 540513,
          "code": "726343007",
          "description": "Partial trisomy of chromosome 5 (disorder)"
        },
        {
          "id": 540514,
          "code": "726344001",
          "description": "Partial trisomy of long arm of chromosome 5 (disorder)"
        },
        {
          "id": 540515,
          "code": "726345000",
          "description": "Partial trisomy of chromosome 6 (disorder)"
        },
        {
          "id": 540516,
          "code": "726346004",
          "description": "Partial trisomy of chromosome 7 (disorder)"
        },
        {
          "id": 540517,
          "code": "726347008",
          "description": "Partial trisomy of chromosome 8 (disorder)"
        },
        {
          "id": 540518,
          "code": "726348003",
          "description": "Partial trisomy of chromosome 9 (disorder)"
        },
        {
          "id": 540519,
          "code": "726349006",
          "description": "Partial trisomy of chromosome 10 (disorder)"
        },
        {
          "id": 540520,
          "code": "726350006",
          "description": "Partial trisomy of chromosome 11 (disorder)"
        },
        {
          "id": 540521,
          "code": "726351005",
          "description": "Partial trisomy of chromosome 12 (disorder)"
        },
        {
          "id": 540522,
          "code": "726352003",
          "description": "Partial trisomy of chromosome 13 (disorder)"
        },
        {
          "id": 540523,
          "code": "726353008",
          "description": "Partial trisomy of chromosome 14 (disorder)"
        },
        {
          "id": 540524,
          "code": "726354002",
          "description": "Partial trisomy of chromosome 15 (disorder)"
        },
        {
          "id": 540525,
          "code": "726355001",
          "description": "Partial trisomy of chromosome 16 (disorder)"
        },
        {
          "id": 540526,
          "code": "726356000",
          "description": "Partial trisomy of chromosome 17 (disorder)"
        },
        {
          "id": 540527,
          "code": "726357009",
          "description": "Partial trisomy of chromosome 18 (disorder)"
        },
        {
          "id": 540528,
          "code": "726358004",
          "description": "Partial trisomy of chromosome 19 (disorder)"
        },
        {
          "id": 540529,
          "code": "726359007",
          "description": "Partial trisomy of short arm of chromosome 19 (disorder)"
        },
        {
          "id": 540530,
          "code": "726360002",
          "description": "Partial trisomy of chromosome 20 (disorder)"
        },
        {
          "id": 540531,
          "code": "726361003",
          "description": "Partial trisomy of chromosome 21 (disorder)"
        },
        {
          "id": 540532,
          "code": "726362005",
          "description": "Partial trisomy of chromosome 22 (disorder)"
        },
        {
          "id": 540533,
          "code": "726363000",
          "description": "Tetraploidy (disorder)"
        },
        {
          "id": 540534,
          "code": "726364006",
          "description": "Complete monosomy of autosome (disorder)"
        },
        {
          "id": 540535,
          "code": "726365007",
          "description": "Deletion of part of chromosome 1 (disorder)"
        },
        {
          "id": 540536,
          "code": "726366008",
          "description": "Deletion of part of chromosome 2 (disorder)"
        },
        {
          "id": 540537,
          "code": "726367004",
          "description": "Deletion of part of long arm of chromosome 2 (disorder)"
        },
        {
          "id": 540538,
          "code": "726368009",
          "description": "Deletion of part of short arm of chromosome 2 (disorder)"
        },
        {
          "id": 540539,
          "code": "726369001",
          "description": "Deletion of part of chromosome 3 (disorder)"
        },
        {
          "id": 540540,
          "code": "726370000",
          "description": "Deletion of part of long arm of chromosome 3 (disorder)"
        },
        {
          "id": 540541,
          "code": "726371001",
          "description": "Deletion of part of chromosome 4 (disorder)"
        },
        {
          "id": 540542,
          "code": "726372008",
          "description": "Deletion of part of chromosome 5 (disorder)"
        },
        {
          "id": 540543,
          "code": "726373003",
          "description": "Deletion of part of long arm of chromosome 5 (disorder)"
        },
        {
          "id": 540544,
          "code": "726374009",
          "description": "Deletion of part of chromosome 6 (disorder)"
        },
        {
          "id": 540545,
          "code": "726375005",
          "description": "Deletion of part of long arm of chromosome 6 (disorder)"
        },
        {
          "id": 540546,
          "code": "726376006",
          "description": "Deletion of part of short arm of chromosome 6 (disorder)"
        },
        {
          "id": 540547,
          "code": "726377002",
          "description": "Deletion of part of chromosome 7 (disorder)"
        },
        {
          "id": 540548,
          "code": "726378007",
          "description": "Deletion of part of chromosome 8 (disorder)"
        },
        {
          "id": 540549,
          "code": "726379004",
          "description": "Deletion of part of chromosome 9 (disorder)"
        },
        {
          "id": 540550,
          "code": "726380001",
          "description": "Deletion of part of chromosome 10 (disorder)"
        },
        {
          "id": 540551,
          "code": "726381002",
          "description": "Deletion of part of chromosome 11 (disorder)"
        },
        {
          "id": 540552,
          "code": "726382009",
          "description": "Deletion of part of chromosome 12 (disorder)"
        },
        {
          "id": 540553,
          "code": "726383004",
          "description": "Deletion of part of long arm of chromosome 12 (disorder)"
        },
        {
          "id": 540554,
          "code": "726384005",
          "description": "Deletion of part of chromosome 13 (disorder)"
        },
        {
          "id": 540555,
          "code": "726385006",
          "description": "Deletion of part of chromosome 14 (disorder)"
        },
        {
          "id": 540556,
          "code": "726386007",
          "description": "Deletion of part of chromosome 15 (disorder)"
        },
        {
          "id": 540557,
          "code": "726387003",
          "description": "Deletion of part of chromosome 16 (disorder)"
        },
        {
          "id": 540558,
          "code": "726388008",
          "description": "Deletion of part of short arm of chromosome 16 (disorder)"
        },
        {
          "id": 540559,
          "code": "726389000",
          "description": "Deletion of part of chromosome 17 (disorder)"
        },
        {
          "id": 540560,
          "code": "726390009",
          "description": "Deletion of part of short arm of chromosome 17 (disorder)"
        },
        {
          "id": 540561,
          "code": "726391008",
          "description": "Deletion of part of chromosome 18 (disorder)"
        },
        {
          "id": 540562,
          "code": "726392001",
          "description": "Deletion of part of chromosome 19 (disorder)"
        },
        {
          "id": 540563,
          "code": "726393006",
          "description": "Deletion of long arm of chromosome 19 (disorder)"
        },
        {
          "id": 540564,
          "code": "726394000",
          "description": "Deletion of short arm of chromosome 19 (disorder)"
        },
        {
          "id": 540565,
          "code": "726395004",
          "description": "Deletion of part of chromosome 20 (disorder)"
        },
        {
          "id": 540566,
          "code": "726396003",
          "description": "Deletion of part of long arm of chromosome 20 (disorder)"
        },
        {
          "id": 540567,
          "code": "726397007",
          "description": "Deletion of part of short arm of chromosome 20 (disorder)"
        },
        {
          "id": 540568,
          "code": "726398002",
          "description": "Deletion of part of chromosome 21 (disorder)"
        },
        {
          "id": 540569,
          "code": "726399005",
          "description": "Deletion of part of chromosome 22 (disorder)"
        },
        {
          "id": 540570,
          "code": "726400003",
          "description": "Uniparental disomy (disorder)"
        },
        {
          "id": 540571,
          "code": "726401004",
          "description": "Uniparental disomy of maternal origin (disorder)"
        },
        {
          "id": 540572,
          "code": "726402006",
          "description": "Uniparental disomy of paternal origin (disorder)"
        },
        {
          "id": 540573,
          "code": "726629006",
          "description": "Scalp defect postaxial polydactyly syndrome (disorder)"
        },
        {
          "id": 540574,
          "code": "726670008",
          "description": "Weaver Williams syndrome (disorder)"
        },
        {
          "id": 540575,
          "code": "726672000",
          "description": "Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)"
        },
        {
          "id": 540576,
          "code": "726705007",
          "description": "3q13 microdeletion syndrome (disorder)"
        },
        {
          "id": 540577,
          "code": "726706008",
          "description": "4p16.3 microduplication syndrome (disorder)"
        },
        {
          "id": 540578,
          "code": "726707004",
          "description": "7q11.23 microduplication syndrome (disorder)"
        },
        {
          "id": 540579,
          "code": "726709001",
          "description": "Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)"
        },
        {
          "id": 540580,
          "code": "726723004",
          "description": "Ring chromosome 13 syndrome (disorder)"
        },
        {
          "id": 540581,
          "code": "726724005",
          "description": "Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)"
        },
        {
          "id": 540582,
          "code": "726732002",
          "description": "X-linked intellectual disability Nascimento type (disorder)"
        },
        {
          "id": 540583,
          "code": "726733007",
          "description": "Chromosome Xp22.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540584,
          "code": "726734001",
          "description": "Short stature locking fingers syndrome (disorder)"
        },
        {
          "id": 540585,
          "code": "72913007",
          "description": "Moore-Federman syndrome (disorder)"
        },
        {
          "id": 540586,
          "code": "72991005",
          "description": "Polyploidy syndrome (disorder)"
        },
        {
          "id": 540587,
          "code": "73035005",
          "description": "10q partial trisomy syndrome (disorder)"
        },
        {
          "id": 540588,
          "code": "732247000",
          "description": "Cleft lip retinopathy syndrome (disorder)"
        },
        {
          "id": 540589,
          "code": "732248005",
          "description": "Coxoauricular syndrome (disorder)"
        },
        {
          "id": 540590,
          "code": "732250002",
          "description": "Craniosynostosis fibular aplasia syndrome (disorder)"
        },
        {
          "id": 540591,
          "code": "732259001",
          "description": "Distal monosomy 17q (disorder)"
        },
        {
          "id": 540592,
          "code": "732261005",
          "description": "Cyprus facial neuromusculoskeletal syndrome (disorder)"
        },
        {
          "id": 540593,
          "code": "732262003",
          "description": "Marfanoid syndrome De Silva type (disorder)"
        },
        {
          "id": 540594,
          "code": "73284007",
          "description": "Marshall-Smith syndrome (disorder)"
        },
        {
          "id": 540595,
          "code": "732926009",
          "description": "Hydrocephalus, tall stature, joint laxity syndrome (disorder)"
        },
        {
          "id": 540596,
          "code": "732927000",
          "description": "Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)"
        },
        {
          "id": 540597,
          "code": "732961003",
          "description": "Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)"
        },
        {
          "id": 540598,
          "code": "733031004",
          "description": "Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)"
        },
        {
          "id": 540599,
          "code": "733034007",
          "description": "Charlie M syndrome (disorder)"
        },
        {
          "id": 540600,
          "code": "733037000",
          "description": "German syndrome (disorder)"
        },
        {
          "id": 540601,
          "code": "733038005",
          "description": "Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)"
        },
        {
          "id": 540602,
          "code": "733050004",
          "description": "Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)"
        },
        {
          "id": 540603,
          "code": "733062000",
          "description": "Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)"
        },
        {
          "id": 540604,
          "code": "733066002",
          "description": "Trigonocephaly, short stature, developmental delay syndrome (disorder)"
        },
        {
          "id": 540605,
          "code": "733069009",
          "description": "Deafness, vitiligo, achalasia syndrome (disorder)"
        },
        {
          "id": 540606,
          "code": "733086003",
          "description": "Pseudoprogeria syndrome (disorder)"
        },
        {
          "id": 540607,
          "code": "733087007",
          "description": "Polydactyly myopia syndrome (disorder)"
        },
        {
          "id": 540608,
          "code": "733088002",
          "description": "Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540609,
          "code": "733091002",
          "description": "Isolated hereditary congenital facial paralysis (disorder)"
        },
        {
          "id": 540610,
          "code": "733094005",
          "description": "Dandy-Walker malformation with postaxial polydactyly syndrome (disorder)"
        },
        {
          "id": 540611,
          "code": "733095006",
          "description": "Skeletal dysplasia brachydactyly syndrome (disorder)"
        },
        {
          "id": 540612,
          "code": "733096007",
          "description": "Thyrocerebrorenal syndrome (disorder)"
        },
        {
          "id": 540613,
          "code": "733110004",
          "description": "Van den Bosch syndrome (disorder)"
        },
        {
          "id": 540614,
          "code": "733116005",
          "description": "Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)"
        },
        {
          "id": 540615,
          "code": "733117001",
          "description": "Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540616,
          "code": "733118006",
          "description": "Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)"
        },
        {
          "id": 540617,
          "code": "733194007",
          "description": "Dementia co-occurrent and due to Down syndrome (disorder)"
        },
        {
          "id": 540618,
          "code": "733300002",
          "description": "Deletion of part of long arm of chromosome 17 (disorder)"
        },
        {
          "id": 540619,
          "code": "733416004",
          "description": "Exostosis, anetoderma, brachydactyly type E syndrome (disorder)"
        },
        {
          "id": 540620,
          "code": "733417008",
          "description": "Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)"
        },
        {
          "id": 540621,
          "code": "733425005",
          "description": "Acrocephalopolysyndactyly type IV (disorder)"
        },
        {
          "id": 540622,
          "code": "733454004",
          "description": "Long thumb brachydactyly syndrome (disorder)"
        },
        {
          "id": 540623,
          "code": "733472005",
          "description": "Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)"
        },
        {
          "id": 540624,
          "code": "733473000",
          "description": "16p13.3 microduplication syndrome (disorder)"
        },
        {
          "id": 540625,
          "code": "733518000",
          "description": "16p11.2p12.2 microduplication syndrome (disorder)"
        },
        {
          "id": 540626,
          "code": "733519008",
          "description": "17q12 microdeletion syndrome (disorder)"
        },
        {
          "id": 540627,
          "code": "733520002",
          "description": "20q13.33 microdeletion syndrome (disorder)"
        },
        {
          "id": 540628,
          "code": "733521003",
          "description": "Distal 16p11.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540629,
          "code": "733522005",
          "description": "Megalocornea with intellectual disability syndrome (disorder)"
        },
        {
          "id": 540630,
          "code": "733604003",
          "description": "Microcephalus, lymphedema, chorioretinopathy syndrome (disorder)"
        },
        {
          "id": 540631,
          "code": "733605002",
          "description": "XY type gonadal dysgenesis with associated anomalies syndrome (disorder)"
        },
        {
          "id": 540633,
          "code": "733623005",
          "description": "Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)"
        },
        {
          "id": 540634,
          "code": "733626002",
          "description": "Atypical Norrie disease due to monosomy Xp11.3 (disorder)"
        },
        {
          "id": 540635,
          "code": "734016004",
          "description": "17p11.2 microduplication syndrome (disorder)"
        },
        {
          "id": 540636,
          "code": "734017008",
          "description": "Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)"
        },
        {
          "id": 540637,
          "code": "734029004",
          "description": "Distal 22q11.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540638,
          "code": "734030009",
          "description": "12q15q21.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540639,
          "code": "737037004",
          "description": "Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder)"
        },
        {
          "id": 540640,
          "code": "74008005",
          "description": "5p partial trisomy syndrome (disorder)"
        },
        {
          "id": 540641,
          "code": "74183001",
          "description": "Partial tetrasomy 9 syndrome (disorder)"
        },
        {
          "id": 540642,
          "code": "742876007",
          "description": "Peroxisome biogenesis disorder (disorder)"
        },
        {
          "id": 540643,
          "code": "74345006",
          "description": "Congenital disorder due to abnormality of chromosome number OR structure (disorder)"
        },
        {
          "id": 540644,
          "code": "74350000",
          "description": "Complete trisomy 9 syndrome (disorder)"
        },
        {
          "id": 540645,
          "code": "74769007",
          "description": "Anomaly of chromosome pair 1 (disorder)"
        },
        {
          "id": 540646,
          "code": "7586009",
          "description": "14q partial trisomy syndrome (disorder)"
        },
        {
          "id": 540647,
          "code": "75893003",
          "description": "19q partial trisomy syndrome (disorder)"
        },
        {
          "id": 540648,
          "code": "75968004",
          "description": "Sotos' syndrome (disorder)"
        },
        {
          "id": 540649,
          "code": "75979009",
          "description": "Johanson-Blizzard syndrome (disorder)"
        },
        {
          "id": 540650,
          "code": "763061004",
          "description": "20q11.2 microduplication syndrome (disorder)"
        },
        {
          "id": 540651,
          "code": "763062006",
          "description": "2q33.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540652,
          "code": "763066009",
          "description": "Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)"
        },
        {
          "id": 540653,
          "code": "763130006",
          "description": "Cleft palate, large ears, small head syndrome (disorder)"
        },
        {
          "id": 540654,
          "code": "763186006",
          "description": "Grubben, De Cock, Borghgraef syndrome (disorder)"
        },
        {
          "id": 540655,
          "code": "763213001",
          "description": "Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)"
        },
        {
          "id": 540656,
          "code": "763272003",
          "description": "Distal trisomy 2q (disorder)"
        },
        {
          "id": 540657,
          "code": "763273008",
          "description": "Distal trisomy 4q (disorder)"
        },
        {
          "id": 540658,
          "code": "763274002",
          "description": "Distal trisomy 5q (disorder)"
        },
        {
          "id": 540659,
          "code": "763275001",
          "description": "Distal trisomy 6q (disorder)"
        },
        {
          "id": 540660,
          "code": "763276000",
          "description": "Distal trisomy 7p (disorder)"
        },
        {
          "id": 540661,
          "code": "763277009",
          "description": "Distal trisomy 8q (disorder)"
        },
        {
          "id": 540662,
          "code": "763278004",
          "description": "Facial dysmorphism, cleft palate, loose skin syndrome (disorder)"
        },
        {
          "id": 540663,
          "code": "763279007",
          "description": "Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder)"
        },
        {
          "id": 540664,
          "code": "763318007",
          "description": "Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder)"
        },
        {
          "id": 540665,
          "code": "763320005",
          "description": "Craniofaciofrontodigital syndrome (disorder)"
        },
        {
          "id": 540666,
          "code": "763353000",
          "description": "Cerebrofacioarticular syndrome (disorder)"
        },
        {
          "id": 540667,
          "code": "763404001",
          "description": "Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540668,
          "code": "763405000",
          "description": "Ring chromosome 15 syndrome (disorder)"
        },
        {
          "id": 540669,
          "code": "763406004",
          "description": "Ring chromosome 16 syndrome (disorder)"
        },
        {
          "id": 540670,
          "code": "763527007",
          "description": "Distal monosomy 13q syndrome (disorder)"
        },
        {
          "id": 540671,
          "code": "763528002",
          "description": "Distal monosomy 3p syndrome (disorder)"
        },
        {
          "id": 540672,
          "code": "763529005",
          "description": "Distal monosomy 7q36 syndrome (disorder)"
        },
        {
          "id": 540673,
          "code": "763530000",
          "description": "Distal monosomy 9p syndrome (disorder)"
        },
        {
          "id": 540674,
          "code": "763615003",
          "description": "Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540675,
          "code": "763616002",
          "description": "Velofacioskeletal syndrome (disorder)"
        },
        {
          "id": 540676,
          "code": "763618001",
          "description": "Wiedemann Steiner syndrome (disorder)"
        },
        {
          "id": 540677,
          "code": "763619009",
          "description": "White forelock with malformations syndrome (disorder)"
        },
        {
          "id": 540678,
          "code": "763620003",
          "description": "Trichodermodysplasia and dental alterations syndrome (disorder)"
        },
        {
          "id": 540679,
          "code": "763630007",
          "description": "Satoyoshi syndrome (disorder)"
        },
        {
          "id": 540680,
          "code": "763631006",
          "description": "Short stature, wormian bones, dextrocardia syndrome (disorder)"
        },
        {
          "id": 540681,
          "code": "763665007",
          "description": "Craniodigital syndrome and intellectual disability syndrome (disorder)"
        },
        {
          "id": 540682,
          "code": "763722004",
          "description": "Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)"
        },
        {
          "id": 540683,
          "code": "763741001",
          "description": "Intellectual disability, alacrima, achalasia syndrome (disorder)"
        },
        {
          "id": 540684,
          "code": "763742008",
          "description": "Intellectual disability, polydactyly, uncombable hair syndrome (disorder)"
        },
        {
          "id": 540685,
          "code": "763743003",
          "description": "Intellectual disability, spasticity, ectrodactyly syndrome (disorder)"
        },
        {
          "id": 540686,
          "code": "763744009",
          "description": "Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)"
        },
        {
          "id": 540687,
          "code": "763745005",
          "description": "Intellectual disability Wolff type (disorder)"
        },
        {
          "id": 540745,
          "code": "764996009",
          "description": "Non-distal trisomy 13q (disorder)"
        },
        {
          "id": 540688,
          "code": "763755009",
          "description": "Dislocation of hip and facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540689,
          "code": "763774001",
          "description": "Keipert syndrome (disorder)"
        },
        {
          "id": 540690,
          "code": "763795006",
          "description": "Malan overgrowth syndrome (disorder)"
        },
        {
          "id": 540691,
          "code": "763797003",
          "description": "Agenesis of corpus callosum and abnormal genitalia syndrome (disorder)"
        },
        {
          "id": 540692,
          "code": "763815000",
          "description": "Oculoauricular syndrome Schorderet type (disorder)"
        },
        {
          "id": 540693,
          "code": "763821001",
          "description": "Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)"
        },
        {
          "id": 540694,
          "code": "763833006",
          "description": "Oro-facial digital syndrome type 1 (disorder)"
        },
        {
          "id": 540695,
          "code": "763834000",
          "description": "Oro-facial digital syndrome type 12 (disorder)"
        },
        {
          "id": 540696,
          "code": "763835004",
          "description": "Oro-facial digital syndrome type 13 (disorder)"
        },
        {
          "id": 540697,
          "code": "763837007",
          "description": "Oro-facial digital syndrome type 14 (disorder)"
        },
        {
          "id": 540698,
          "code": "763839005",
          "description": "Neonatal Marfan syndrome (disorder)"
        },
        {
          "id": 540699,
          "code": "763860004",
          "description": "Otofaciocervical syndrome (disorder)"
        },
        {
          "id": 540700,
          "code": "763863002",
          "description": "Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)"
        },
        {
          "id": 540701,
          "code": "763866005",
          "description": "Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540702,
          "code": "763868006",
          "description": "Short stature homeobox related short stature (disorder)"
        },
        {
          "id": 540703,
          "code": "764435003",
          "description": "17q12 microduplication syndrome (disorder)"
        },
        {
          "id": 540704,
          "code": "764440006",
          "description": "19p13.13 microdeletion syndrome (disorder)"
        },
        {
          "id": 540705,
          "code": "764447009",
          "description": "Distal trisomy 11q (disorder)"
        },
        {
          "id": 540706,
          "code": "764454003",
          "description": "Distal trisomy 13q (disorder)"
        },
        {
          "id": 540707,
          "code": "764455002",
          "description": "Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)"
        },
        {
          "id": 540708,
          "code": "764459008",
          "description": "Distal trisomy 16q (disorder)"
        },
        {
          "id": 540709,
          "code": "764461004",
          "description": "Mosaic trisomy 10 syndrome (disorder)"
        },
        {
          "id": 540710,
          "code": "764463001",
          "description": "Mosaic trisomy 12 syndrome (disorder)"
        },
        {
          "id": 540711,
          "code": "764466009",
          "description": "Mosaic trisomy 14 syndrome (disorder)"
        },
        {
          "id": 540712,
          "code": "76447002",
          "description": "6q partial trisomy syndrome (disorder)"
        },
        {
          "id": 540713,
          "code": "764500002",
          "description": "Distal trisomy 20q (disorder)"
        },
        {
          "id": 540714,
          "code": "764512003",
          "description": "Distal trisomy 22q (disorder)"
        },
        {
          "id": 540715,
          "code": "764518004",
          "description": "Distal trisomy 2p (disorder)"
        },
        {
          "id": 540716,
          "code": "764519007",
          "description": "Distal trisomy 3p (disorder)"
        },
        {
          "id": 540717,
          "code": "764520001",
          "description": "Distal trisomy 9q (disorder)"
        },
        {
          "id": 540718,
          "code": "764524005",
          "description": "Distal 22q11.2 microduplication syndrome (disorder)"
        },
        {
          "id": 540719,
          "code": "764619001",
          "description": "Mosaic trisomy 15 syndrome (disorder)"
        },
        {
          "id": 540720,
          "code": "764621006",
          "description": "Mosaic trisomy 16 syndrome (disorder)"
        },
        {
          "id": 540721,
          "code": "764622004",
          "description": "Mosaic trisomy 17 syndrome (disorder)"
        },
        {
          "id": 540722,
          "code": "764623009",
          "description": "Mosaic trisomy 2 syndrome (disorder)"
        },
        {
          "id": 540723,
          "code": "764624003",
          "description": "Mosaic trisomy 20 syndrome (disorder)"
        },
        {
          "id": 540724,
          "code": "764625002",
          "description": "Mosaic trisomy 22 syndrome (disorder)"
        },
        {
          "id": 540725,
          "code": "764627005",
          "description": "Mosaic trisomy 3 syndrome (disorder)"
        },
        {
          "id": 540726,
          "code": "764628000",
          "description": "Mosaic trisomy 4 syndrome (disorder)"
        },
        {
          "id": 540727,
          "code": "764629008",
          "description": "Mosaic trisomy 5 syndrome (disorder)"
        },
        {
          "id": 540728,
          "code": "764630003",
          "description": "Mosaic trisomy 7 syndrome (disorder)"
        },
        {
          "id": 540729,
          "code": "764690001",
          "description": "Tetrasomy 21 (disorder)"
        },
        {
          "id": 540730,
          "code": "764696007",
          "description": "Distal 17p13.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540731,
          "code": "764697003",
          "description": "Verloove Vanhorick Brubakk syndrome (disorder)"
        },
        {
          "id": 540732,
          "code": "764703002",
          "description": "7p22.1 microduplication syndrome (disorder)"
        },
        {
          "id": 540733,
          "code": "764711007",
          "description": "Xq12-q13.3 duplication syndrome (disorder)"
        },
        {
          "id": 540734,
          "code": "764725008",
          "description": "9p13 microdeletion syndrome (disorder)"
        },
        {
          "id": 540735,
          "code": "764732004",
          "description": "Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)"
        },
        {
          "id": 540736,
          "code": "764739008",
          "description": "Proximal chromosome 18q deletion syndrome (disorder)"
        },
        {
          "id": 540737,
          "code": "764810000",
          "description": "Branchiootic syndrome (disorder)"
        },
        {
          "id": 540738,
          "code": "764857004",
          "description": "Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder)"
        },
        {
          "id": 540739,
          "code": "764861005",
          "description": "Intellectual disability Birk-Barel type (disorder)"
        },
        {
          "id": 540740,
          "code": "764942005",
          "description": "Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)"
        },
        {
          "id": 540741,
          "code": "764946008",
          "description": "Constitutional mismatch repair deficiency syndrome (disorder)"
        },
        {
          "id": 540742,
          "code": "764950001",
          "description": "Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540743,
          "code": "764959000",
          "description": "Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder)"
        },
        {
          "id": 540744,
          "code": "764989007",
          "description": "Mosaic trisomy 9 syndrome (disorder)"
        },
        {
          "id": 540746,
          "code": "764997000",
          "description": "Non-distal trisomy 9q (disorder)"
        },
        {
          "id": 540747,
          "code": "765140006",
          "description": "8p23.1 duplication syndrome (disorder)"
        },
        {
          "id": 540748,
          "code": "765142003",
          "description": "Proximal 16p11.2 microduplication syndrome (disorder)"
        },
        {
          "id": 540749,
          "code": "765171002",
          "description": "Distal chromosome 18q deletion syndrome (disorder)"
        },
        {
          "id": 540750,
          "code": "76520005",
          "description": "Robinow syndrome (disorder)"
        },
        {
          "id": 540751,
          "code": "765434008",
          "description": "Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (disorder)"
        },
        {
          "id": 540752,
          "code": "765471005",
          "description": "X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)"
        },
        {
          "id": 540753,
          "code": "765484001",
          "description": "Ring chromosome 19 syndrome (disorder)"
        },
        {
          "id": 540754,
          "code": "765485000",
          "description": "Ring chromosome 2 syndrome (disorder)"
        },
        {
          "id": 540755,
          "code": "765486004",
          "description": "Ring chromosome 3 syndrome (disorder)"
        },
        {
          "id": 540756,
          "code": "765487008",
          "description": "Ring chromosome 5 syndrome (disorder)"
        },
        {
          "id": 540757,
          "code": "765488003",
          "description": "Ring chromosome 6 syndrome (disorder)"
        },
        {
          "id": 540758,
          "code": "765489006",
          "description": "Ring chromosome 7 syndrome (disorder)"
        },
        {
          "id": 540759,
          "code": "765750001",
          "description": "Angio-osteohypotrophic syndrome (disorder)"
        },
        {
          "id": 540760,
          "code": "765755006",
          "description": "Axial mesodermal dysplasia spectrum (disorder)"
        },
        {
          "id": 540761,
          "code": "765758008",
          "description": "Microcephalic primordial dwarfism Montreal type (disorder)"
        },
        {
          "id": 540762,
          "code": "765761009",
          "description": "Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)"
        },
        {
          "id": 540763,
          "code": "766032007",
          "description": "Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)"
        },
        {
          "id": 540764,
          "code": "766050000",
          "description": "Distal monosomy 15q syndrome (disorder)"
        },
        {
          "id": 540765,
          "code": "766051001",
          "description": "Distal trisomy 17q syndrome (disorder)"
        },
        {
          "id": 540766,
          "code": "766052008",
          "description": "Distal trisomy 19q syndrome (disorder)"
        },
        {
          "id": 540767,
          "code": "766053003",
          "description": "Distal trisomy 1p36 syndrome (disorder)"
        },
        {
          "id": 540768,
          "code": "766237006",
          "description": "Maternal uniparental disomy of chromosome 2 (disorder)"
        },
        {
          "id": 540769,
          "code": "766238001",
          "description": "Maternal uniparental disomy of chromosome 4 (disorder)"
        },
        {
          "id": 540770,
          "code": "766239009",
          "description": "Maternal uniparental disomy of chromosome 6 (disorder)"
        },
        {
          "id": 540771,
          "code": "766240006",
          "description": "Maternal uniparental disomy of chromosome 9 (disorder)"
        },
        {
          "id": 540772,
          "code": "766249007",
          "description": "Deafness, nephritis, anorectal malformation syndrome (disorder)"
        },
        {
          "id": 540773,
          "code": "766716004",
          "description": "Monosomy 13q34 (disorder)"
        },
        {
          "id": 540774,
          "code": "766719006",
          "description": "Paternal uniparental disomy of chromosome 1 (disorder)"
        },
        {
          "id": 540775,
          "code": "766720000",
          "description": "Paternal uniparental disomy of chromosome 21 (disorder)"
        },
        {
          "id": 540776,
          "code": "766721001",
          "description": "Paternal uniparental disomy of chromosome 7 (disorder)"
        },
        {
          "id": 540777,
          "code": "766753005",
          "description": "Nijmegen breakage syndrome-like disorder (disorder)"
        },
        {
          "id": 540778,
          "code": "766755003",
          "description": "Tetrasomy 5p (disorder)"
        },
        {
          "id": 540779,
          "code": "766760004",
          "description": "Small ring X chromosome (disorder)"
        },
        {
          "id": 540780,
          "code": "766765009",
          "description": "Radio-renal syndrome (disorder)"
        },
        {
          "id": 540781,
          "code": "766766005",
          "description": "1p31p32 microdeletion syndrome (disorder)"
        },
        {
          "id": 540782,
          "code": "766816008",
          "description": "2q23.1 microduplication syndrome (disorder)"
        },
        {
          "id": 540783,
          "code": "766824003",
          "description": "Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder)"
        },
        {
          "id": 540784,
          "code": "766870005",
          "description": "Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)"
        },
        {
          "id": 540785,
          "code": "766983005",
          "description": "Susceptibility to respiratory infection associated with CD8alpha chain mutation (disorder)"
        },
        {
          "id": 540786,
          "code": "766987006",
          "description": "Moebius syndrome (disorder)"
        },
        {
          "id": 540787,
          "code": "768471006",
          "description": "16p12.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540788,
          "code": "768555009",
          "description": "5q31.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540789,
          "code": "768713003",
          "description": "15q13.3 microduplication syndrome (disorder)"
        },
        {
          "id": 540790,
          "code": "76880004",
          "description": "Angelman syndrome (disorder)"
        },
        {
          "id": 540791,
          "code": "768843007",
          "description": "Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540792,
          "code": "768927001",
          "description": "Trisomy 1q syndrome (disorder)"
        },
        {
          "id": 540793,
          "code": "768929003",
          "description": "Trisomy 8p syndrome (disorder)"
        },
        {
          "id": 540794,
          "code": "768930008",
          "description": "Partial trisomy of short arm of chromosome 8 (disorder)"
        },
        {
          "id": 540795,
          "code": "768931007",
          "description": "Partial trisomy of long arm of chromosome 1 (disorder)"
        },
        {
          "id": 540796,
          "code": "770401007",
          "description": "10q22.3q23.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540797,
          "code": "770404004",
          "description": "Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)"
        },
        {
          "id": 540798,
          "code": "770410004",
          "description": "Distal monosomy 14q (disorder)"
        },
        {
          "id": 540799,
          "code": "770411000",
          "description": "Distal monosomy 19p13.3 (disorder)"
        },
        {
          "id": 540800,
          "code": "770414008",
          "description": "Alport syndrome (disorder)"
        },
        {
          "id": 540801,
          "code": "770562000",
          "description": "Maternal uniparental disomy of chromosome 1 (disorder)"
        },
        {
          "id": 540802,
          "code": "770563005",
          "description": "Maternal uniparental disomy of chromosome 13 (disorder)"
        },
        {
          "id": 540803,
          "code": "770564004",
          "description": "Microcephalic primordial dwarfism Alazami type (disorder)"
        },
        {
          "id": 540804,
          "code": "770565003",
          "description": "Microcephalic primordial dwarfism Dauber type (disorder)"
        },
        {
          "id": 540805,
          "code": "770566002",
          "description": "Monosomy 13q14 syndrome (disorder)"
        },
        {
          "id": 540806,
          "code": "770595006",
          "description": "Ring chromosome 12 syndrome (disorder)"
        },
        {
          "id": 540807,
          "code": "770604006",
          "description": "X-linked cerebral, cerebellar, coloboma syndrome (disorder)"
        },
        {
          "id": 540808,
          "code": "770625006",
          "description": "Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)"
        },
        {
          "id": 540809,
          "code": "770629000",
          "description": "Distal 17p13.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540810,
          "code": "770663003",
          "description": "Tetrasomy 11q24.1 (disorder)"
        },
        {
          "id": 540811,
          "code": "770665005",
          "description": "Non-distal monosomy 10q (disorder)"
        },
        {
          "id": 540812,
          "code": "770666006",
          "description": "Non-distal trisomy 10q (disorder)"
        },
        {
          "id": 540813,
          "code": "770668007",
          "description": "Paternal uniparental disomy of chromosome 13 (disorder)"
        },
        {
          "id": 540814,
          "code": "770669004",
          "description": "Paternal uniparental disomy of chromosome 5 (disorder)"
        },
        {
          "id": 540815,
          "code": "770670003",
          "description": "Paternal uniparental disomy of chromosome 6 (disorder)"
        },
        {
          "id": 540816,
          "code": "770679002",
          "description": "Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)"
        },
        {
          "id": 540817,
          "code": "770680004",
          "description": "Prader-Willi-like syndrome (disorder)"
        },
        {
          "id": 540818,
          "code": "770681000",
          "description": "Robin sequence and oligodactyly syndrome (disorder)"
        },
        {
          "id": 540819,
          "code": "770719004",
          "description": "3q27.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540820,
          "code": "770721009",
          "description": "Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540821,
          "code": "770728003",
          "description": "Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)"
        },
        {
          "id": 540822,
          "code": "770750002",
          "description": "Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)"
        },
        {
          "id": 540823,
          "code": "770751003",
          "description": "Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)"
        },
        {
          "id": 540824,
          "code": "770754006",
          "description": "2p21 microdeletion syndrome without cystinuria (disorder)"
        },
        {
          "id": 540825,
          "code": "770755007",
          "description": "Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)"
        },
        {
          "id": 540826,
          "code": "770756008",
          "description": "2p13.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540827,
          "code": "770760006",
          "description": "16q24.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540828,
          "code": "770788000",
          "description": "Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder)"
        },
        {
          "id": 540829,
          "code": "770793002",
          "description": "5p13 microduplication syndrome (disorder)"
        },
        {
          "id": 540830,
          "code": "770794008",
          "description": "11p15.4 microduplication syndrome (disorder)"
        },
        {
          "id": 540831,
          "code": "770900000",
          "description": "Familial omphalocele syndrome with facial dysmorphism (disorder)"
        },
        {
          "id": 540832,
          "code": "770901001",
          "description": "Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)"
        },
        {
          "id": 540833,
          "code": "770902008",
          "description": "Distal monosomy 12p (disorder)"
        },
        {
          "id": 540834,
          "code": "770905005",
          "description": "Distal 7q11.23 microdeletion syndrome (disorder)"
        },
        {
          "id": 540835,
          "code": "770907002",
          "description": "Kagami Ogata syndrome (disorder)"
        },
        {
          "id": 540836,
          "code": "770941005",
          "description": "Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)"
        },
        {
          "id": 540837,
          "code": "770944002",
          "description": "Oculootodental syndrome (disorder)"
        },
        {
          "id": 540838,
          "code": "770948004",
          "description": "Rhizomelic syndrome Urbach type (disorder)"
        },
        {
          "id": 540839,
          "code": "771013004",
          "description": "Pilotto syndrome (disorder)"
        },
        {
          "id": 540840,
          "code": "771072001",
          "description": "Monosomy 9p (disorder)"
        },
        {
          "id": 540841,
          "code": "771074000",
          "description": "Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540842,
          "code": "771077007",
          "description": "Intellectual disability, short stature, hypertelorism syndrome (disorder)"
        },
        {
          "id": 540843,
          "code": "771148008",
          "description": "X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)"
        },
        {
          "id": 540844,
          "code": "771149000",
          "description": "Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540845,
          "code": "771178004",
          "description": "Edinburgh malformation syndrome (disorder)"
        },
        {
          "id": 540846,
          "code": "771179007",
          "description": "Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)"
        },
        {
          "id": 540847,
          "code": "771182002",
          "description": "Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)"
        },
        {
          "id": 540848,
          "code": "771185000",
          "description": "Imperforate oropharynx, costovertebral anomalies syndrome (disorder)"
        },
        {
          "id": 540849,
          "code": "771186004",
          "description": "Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)"
        },
        {
          "id": 540850,
          "code": "771187008",
          "description": "Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome (disorder)"
        },
        {
          "id": 540851,
          "code": "771261002",
          "description": "Digital extensor muscle aplasia with polyneuropathy (disorder)"
        },
        {
          "id": 540852,
          "code": "771264005",
          "description": "Absent radius, anogenital anomalies syndrome (disorder)"
        },
        {
          "id": 540853,
          "code": "771265006",
          "description": "Teebi Shaltout syndrome (disorder)"
        },
        {
          "id": 540854,
          "code": "771266007",
          "description": "Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)"
        },
        {
          "id": 540855,
          "code": "771337007",
          "description": "1q21.1 microduplication syndrome (disorder)"
        },
        {
          "id": 540856,
          "code": "771340007",
          "description": "15q11.2 microdeletion syndrome (disorder)"
        },
        {
          "id": 540857,
          "code": "771341006",
          "description": "14q11.2 microduplication syndrome (disorder)"
        },
        {
          "id": 540858,
          "code": "771439009",
          "description": "14q22q23 microdeletion syndrome (disorder)"
        },
        {
          "id": 540859,
          "code": "771440006",
          "description": "Hemihyperplasia with multiple lipomatosis syndrome (disorder)"
        },
        {
          "id": 540860,
          "code": "771442003",
          "description": "Ogden syndrome (disorder)"
        },
        {
          "id": 540861,
          "code": "771470001",
          "description": "Jawad syndrome (disorder)"
        },
        {
          "id": 540862,
          "code": "771476007",
          "description": "Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)"
        },
        {
          "id": 540863,
          "code": "771477003",
          "description": "15q overgrowth syndrome (disorder)"
        },
        {
          "id": 540864,
          "code": "771511005",
          "description": "Thrombocythemia with distal limb defect (disorder)"
        },
        {
          "id": 540865,
          "code": "771515001",
          "description": "Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)"
        },
        {
          "id": 540866,
          "code": "772224009",
          "description": "Warburg micro syndrome (disorder)"
        },
        {
          "id": 540867,
          "code": "772225005",
          "description": "RAB18, member RAS oncogene family deficiency (disorder)"
        },
        {
          "id": 540868,
          "code": "77269002",
          "description": "Complete trisomy 16 syndrome (disorder)"
        },
        {
          "id": 540869,
          "code": "7727004",
          "description": "Acephalorhachia (disorder)"
        },
        {
          "id": 540870,
          "code": "773274001",
          "description": "X-linked intellectual disability, craniofacioskeletal syndrome (disorder)"
        },
        {
          "id": 540871,
          "code": "773278003",
          "description": "Familial osteodysplasia Anderson type (disorder)"
        },
        {
          "id": 540872,
          "code": "773279006",
          "description": "Postaxial polydactyly, dental, vertebral anomalies syndrome (disorder)"
        },
        {
          "id": 540873,
          "code": "773280009",
          "description": "Hydrocephalus, blue sclera, nephropathy syndrome (disorder)"
        },
        {
          "id": 540874,
          "code": "773281008",
          "description": "Thakker Donnai syndrome (disorder)"
        },
        {
          "id": 540875,
          "code": "773282001",
          "description": "Macrosomia, microphthalmia, cleft palate syndrome (disorder)"
        },
        {
          "id": 540876,
          "code": "773299000",
          "description": "Maternal uniparental disomy of chromosome 16 (disorder)"
        },
        {
          "id": 540877,
          "code": "773307006",
          "description": "Zechi Ceide syndrome (disorder)"
        },
        {
          "id": 540878,
          "code": "773325004",
          "description": "Distal 7q11.23 microduplication syndrome (disorder)"
        },
        {
          "id": 540879,
          "code": "773326003",
          "description": "7q31 microdeletion syndrome (disorder)"
        },
        {
          "id": 540880,
          "code": "773329005",
          "description": "CK syndrome (disorder)"
        },
        {
          "id": 540881,
          "code": "773332008",
          "description": "Craniosynostosis and dental anomalies syndrome (disorder)"
        },
        {
          "id": 540882,
          "code": "773346008",
          "description": "20p13 microdeletion syndrome (disorder)"
        },
        {
          "id": 540883,
          "code": "773400009",
          "description": "Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder)"
        },
        {
          "id": 540884,
          "code": "773415005",
          "description": "Contiguous ABCD1 DXS1357E deletion syndrome (disorder)"
        },
        {
          "id": 540885,
          "code": "773416006",
          "description": "Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)"
        },
        {
          "id": 540886,
          "code": "773419004",
          "description": "Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540887,
          "code": "773493002",
          "description": "9q31.1q31.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540888,
          "code": "773494008",
          "description": "14q24.1q24.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540889,
          "code": "773547003",
          "description": "13q12.3 microdeletion syndrome (disorder)"
        },
        {
          "id": 540890,
          "code": "773551001",
          "description": "Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)"
        },
        {
          "id": 540891,
          "code": "773552008",
          "description": "Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder)"
        },
        {
          "id": 540892,
          "code": "773554009",
          "description": "THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)"
        },
        {
          "id": 540893,
          "code": "773556006",
          "description": "Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540894,
          "code": "773557002",
          "description": "Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome (disorder)"
        },
        {
          "id": 540895,
          "code": "773578004",
          "description": "Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540896,
          "code": "773581009",
          "description": "Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome (disorder)"
        },
        {
          "id": 540897,
          "code": "773583007",
          "description": "Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540898,
          "code": "773584001",
          "description": "Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome (disorder)"
        },
        {
          "id": 540899,
          "code": "773587008",
          "description": "X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)"
        },
        {
          "id": 540900,
          "code": "773621003",
          "description": "Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)"
        },
        {
          "id": 540901,
          "code": "773622005",
          "description": "Craniofacial dysplasia osteopenia syndrome (disorder)"
        },
        {
          "id": 540902,
          "code": "773625007",
          "description": "Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)"
        },
        {
          "id": 540903,
          "code": "773626008",
          "description": "Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder)"
        },
        {
          "id": 540904,
          "code": "773628009",
          "description": "Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)"
        },
        {
          "id": 540905,
          "code": "773643006",
          "description": "Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)"
        },
        {
          "id": 540906,
          "code": "773665006",
          "description": "Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)"
        },
        {
          "id": 540907,
          "code": "773667003",
          "description": "Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)"
        },
        {
          "id": 540908,
          "code": "773670004",
          "description": "Distal Xq28 microduplication syndrome (disorder)"
        },
        {
          "id": 540909,
          "code": "773672007",
          "description": "Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)"
        },
        {
          "id": 540910,
          "code": "773699009",
          "description": "Pitt Hopkins-like syndrome (disorder)"
        },
        {
          "id": 540911,
          "code": "773735007",
          "description": "Deafness with onychodystrophy syndrome (disorder)"
        },
        {
          "id": 540912,
          "code": "773749003",
          "description": "Genitopalatocardiac syndrome (disorder)"
        },
        {
          "id": 540913,
          "code": "773750003",
          "description": "Flat face, microstomia, ear anomaly syndrome (disorder)"
        },
        {
          "id": 540914,
          "code": "773768000",
          "description": "Emery Nelson syndrome (disorder)"
        },
        {
          "id": 540915,
          "code": "773769008",
          "description": "Ataxia, photosensitivity, short stature syndrome (disorder)"
        },
        {
          "id": 540916,
          "code": "773770009",
          "description": "Ankyloblepharon filiforme adnatum with imperforate anus syndrome (disorder)"
        },
        {
          "id": 540917,
          "code": "773773006",
          "description": "Acrodysplasia scoliosis (disorder)"
        },
        {
          "id": 540918,
          "code": "774068004",
          "description": "AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder)"
        },
        {
          "id": 540919,
          "code": "774070008",
          "description": "Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)"
        },
        {
          "id": 540920,
          "code": "774102003",
          "description": "Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)"
        },
        {
          "id": 540921,
          "code": "774149004",
          "description": "Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)"
        },
        {
          "id": 540922,
          "code": "774150004",
          "description": "Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder)"
        },
        {
          "id": 540923,
          "code": "774155009",
          "description": "Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)"
        },
        {
          "id": 540924,
          "code": "774203000",
          "description": "Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)"
        },
        {
          "id": 540925,
          "code": "77497005",
          "description": "3p partial trisomy syndrome (disorder)"
        },
        {
          "id": 540926,
          "code": "77527000",
          "description": "9p partial trisomy syndrome (disorder)"
        },
        {
          "id": 540927,
          "code": "77608001",
          "description": "Baller-Gerold syndrome (disorder)"
        },
        {
          "id": 540928,
          "code": "776204008",
          "description": "Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540929,
          "code": "77701002",
          "description": "Multiple malformation syndrome, moderate short stature, facial (disorder)"
        },
        {
          "id": 540930,
          "code": "777998000",
          "description": "Temtamy preaxial brachydactyly syndrome (disorder)"
        },
        {
          "id": 540931,
          "code": "778000002",
          "description": "3q26q27 microdeletion syndrome (disorder)"
        },
        {
          "id": 540932,
          "code": "778007004",
          "description": "12p12.1 microdeletion syndrome (disorder)"
        },
        {
          "id": 540933,
          "code": "778008009",
          "description": "Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)"
        },
        {
          "id": 540934,
          "code": "778009001",
          "description": "Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)"
        },
        {
          "id": 540935,
          "code": "778012003",
          "description": "Temple syndrome (disorder)"
        },
        {
          "id": 540936,
          "code": "778023004",
          "description": "Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)"
        },
        {
          "id": 540937,
          "code": "778026007",
          "description": "Lethal polymalformative syndrome Boissel type (disorder)"
        },
        {
          "id": 540938,
          "code": "778043005",
          "description": "Ring chromosome 17 syndrome (disorder)"
        },
        {
          "id": 540939,
          "code": "77807009",
          "description": "Complete trisomy 10 syndrome (disorder)"
        },
        {
          "id": 540940,
          "code": "778073001",
          "description": "3q26 microduplication syndrome (disorder)"
        },
        {
          "id": 540941,
          "code": "782669004",
          "description": "10q22.3q23.3 microduplication syndrome (disorder)"
        },
        {
          "id": 540942,
          "code": "782673001",
          "description": "Distal monosomy 4q (disorder)"
        },
        {
          "id": 540943,
          "code": "782674007",
          "description": "Distal monosomy 7p (disorder)"
        },
        {
          "id": 540944,
          "code": "782676009",
          "description": "Distal trisomy 18q (disorder)"
        },
        {
          "id": 540945,
          "code": "782691006",
          "description": "Maternal uniparental disomy of chromosome 21 (disorder)"
        },
        {
          "id": 540946,
          "code": "782692004",
          "description": "Maternal uniparental disomy of chromosome 22 (disorder)"
        },
        {
          "id": 540947,
          "code": "782694003",
          "description": "Non-distal monosomy 12q (disorder)"
        },
        {
          "id": 540948,
          "code": "782722002",
          "description": "Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder)"
        },
        {
          "id": 540949,
          "code": "782736007",
          "description": "Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)"
        },
        {
          "id": 540950,
          "code": "782739000",
          "description": "Male emopamil-binding protein disorder with neurological defect (disorder)"
        },
        {
          "id": 540951,
          "code": "782753000",
          "description": "Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)"
        },
        {
          "id": 540952,
          "code": "782755007",
          "description": "Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)"
        },
        {
          "id": 540953,
          "code": "782758009",
          "description": "Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)"
        },
        {
          "id": 540954,
          "code": "782780007",
          "description": "Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)"
        },
        {
          "id": 540955,
          "code": "782783009",
          "description": "Oculoauriculofrontonasal syndrome (disorder)"
        },
        {
          "id": 540956,
          "code": "782825008",
          "description": "Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)"
        },
        {
          "id": 540957,
          "code": "782877002",
          "description": "Xp22.13p22.2 duplication syndrome (disorder)"
        },
        {
          "id": 540958,
          "code": "782914000",
          "description": "Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)"
        },
        {
          "id": 540959,
          "code": "782940006",
          "description": "Dobrow syndrome (disorder)"
        },
        {
          "id": 540960,
          "code": "782941005",
          "description": "Richieri Costa-da Silva syndrome (disorder)"
        },
        {
          "id": 540961,
          "code": "782945001",
          "description": "Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)"
        },
        {
          "id": 540962,
          "code": "782949007",
          "description": "Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)"
        },
        {
          "id": 540963,
          "code": "782951006",
          "description": "Thoracic dysplasia and hydrocephalus syndrome (disorder)"
        },
        {
          "id": 540964,
          "code": "783004003",
          "description": "Thin ribs, tubular bones, dysmorphism syndrome (disorder)"
        },
        {
          "id": 540965,
          "code": "783005002",
          "description": "Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome (disorder)"
        },
        {
          "id": 540966,
          "code": "783061008",
          "description": "Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)"
        },
        {
          "id": 540967,
          "code": "783089006",
          "description": "Macrocephaly, intellectual disability, autism syndrome (disorder)"
        },
        {
          "id": 540968,
          "code": "783091003",
          "description": "46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)"
        },
        {
          "id": 540969,
          "code": "783096008",
          "description": "Subaortic stenosis and short stature syndrome (disorder)"
        },
        {
          "id": 540970,
          "code": "783097004",
          "description": "Stickler syndrome type 3 (disorder)"
        },
        {
          "id": 540971,
          "code": "783143001",
          "description": "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder)"
        },
        {
          "id": 540972,
          "code": "783149002",
          "description": "Mosaic genome-wide paternal uniparental disomy (disorder)"
        },
        {
          "id": 540973,
          "code": "783156008",
          "description": "Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder)"
        },
        {
          "id": 540974,
          "code": "783159001",
          "description": "Holzgreve syndrome (disorder)"
        },
        {
          "id": 540975,
          "code": "783164002",
          "description": "Distal monosomy 20q (disorder)"
        },
        {
          "id": 540976,
          "code": "783181006",
          "description": "Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)"
        },
        {
          "id": 540977,
          "code": "783204009",
          "description": "Ankyloblepharon filiforme adnatum with cleft palate syndrome (disorder)"
        },
        {
          "id": 540978,
          "code": "783551005",
          "description": "Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)"
        },
        {
          "id": 540979,
          "code": "783553008",
          "description": "Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)"
        },
        {
          "id": 540980,
          "code": "783562005",
          "description": "Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)"
        },
        {
          "id": 540981,
          "code": "783619003",
          "description": "Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)"
        },
        {
          "id": 540982,
          "code": "783700001",
          "description": "Syndactyly, polydactyly, ear lobe syndrome (disorder)"
        },
        {
          "id": 540983,
          "code": "783701002",
          "description": "Port-wine nevi, mega cisterna magna, hydrocephalus syndrome (disorder)"
        },
        {
          "id": 540984,
          "code": "783703004",
          "description": "White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)"
        },
        {
          "id": 540985,
          "code": "783718003",
          "description": "Paternal uniparental disomy of chromosome X (disorder)"
        },
        {
          "id": 540986,
          "code": "783735004",
          "description": "Maternal uniparental disomy of chromosome X (disorder)"
        },
        {
          "id": 540987,
          "code": "783738002",
          "description": "Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)"
        },
        {
          "id": 540988,
          "code": "783774006",
          "description": "External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)"
        },
        {
          "id": 540989,
          "code": "784010006",
          "description": "Otopalatodigital syndrome spectrum disorder (disorder)"
        },
        {
          "id": 540990,
          "code": "784351000",
          "description": "Antecubital pterygium syndrome (disorder)"
        },
        {
          "id": 540991,
          "code": "785303004",
          "description": "Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)"
        },
        {
          "id": 540992,
          "code": "785808002",
          "description": "Aneurysm osteoarthritis syndrome (disorder)"
        },
        {
          "id": 540993,
          "code": "78675000",
          "description": "Stickler syndrome (disorder)"
        },
        {
          "id": 540994,
          "code": "787093004",
          "description": "Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)"
        },
        {
          "id": 540995,
          "code": "787094005",
          "description": "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (disorder)"
        },
        {
          "id": 540996,
          "code": "787171006",
          "description": "21q22.11q22.12 microdeletion syndrome (disorder)"
        },
        {
          "id": 540997,
          "code": "78740005",
          "description": "Complete monosomy 21 syndrome (disorder)"
        },
        {
          "id": 540998,
          "code": "787407003",
          "description": "Muenke syndrome (disorder)"
        },
        {
          "id": 540999,
          "code": "787411009",
          "description": "Monosomy 22 (disorder)"
        },
        {
          "id": 541000,
          "code": "788584007",
          "description": "Blepharophimosis and mental retardation syndrome (disorder)"
        },
        {
          "id": 541001,
          "code": "7903009",
          "description": "Hallermann-Streiff syndrome (disorder)"
        },
        {
          "id": 541002,
          "code": "79656000",
          "description": "Anomaly of chromosome pair 19 (disorder)"
        },
        {
          "id": 541003,
          "code": "79665007",
          "description": "Wildervanck syndrome (disorder)"
        },
        {
          "id": 541004,
          "code": "81304006",
          "description": "7q partial monosomy syndrome (disorder)"
        },
        {
          "id": 541005,
          "code": "81604003",
          "description": "Mulibrey nanism syndrome (disorder)"
        },
        {
          "id": 541006,
          "code": "816067005",
          "description": "Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder)"
        },
        {
          "id": 541007,
          "code": "81678004",
          "description": "Ring chromosome 4 syndrome (disorder)"
        },
        {
          "id": 541008,
          "code": "81771002",
          "description": "Opitz-Frias syndrome (disorder)"
        },
        {
          "id": 541009,
          "code": "81780002",
          "description": "Beckwith-Wiedemann syndrome (disorder)"
        },
        {
          "id": 541010,
          "code": "818959006",
          "description": "Trichorhinophalangeal syndrome type 1 and 3 (disorder)"
        },
        {
          "id": 541011,
          "code": "8234004",
          "description": "XY females (disorder)"
        },
        {
          "id": 541012,
          "code": "82354003",
          "description": "Multiple system malformation syndrome (disorder)"
        },
        {
          "id": 541013,
          "code": "82751009",
          "description": "7p partial trisomy syndrome (disorder)"
        },
        {
          "id": 541014,
          "code": "82837002",
          "description": "Kenny syndrome (disorder)"
        },
        {
          "id": 541015,
          "code": "829974003",
          "description": "Mosaic trisomy 1 syndrome (disorder)"
        },
        {
          "id": 541016,
          "code": "8301004",
          "description": "Caudal dysplasia sequence (disorder)"
        },
        {
          "id": 541017,
          "code": "83015004",
          "description": "Saethre-Chotzen syndrome (disorder)"
        },
        {
          "id": 541018,
          "code": "83579008",
          "description": "Mixed gonadal dysgenesis (disorder)"
        },
        {
          "id": 541019,
          "code": "83585001",
          "description": "14q partial proximal trisomy syndrome (disorder)"
        },
        {
          "id": 541020,
          "code": "83721006",
          "description": "6p partial trisomy syndrome (disorder)"
        },
        {
          "id": 541021,
          "code": "838364007",
          "description": "Aortic aneurysm due to Loeys-Dietz syndrome (disorder)"
        },
        {
          "id": 541022,
          "code": "83923004",
          "description": "Familial interstitial nephritis (disorder)"
        },
        {
          "id": 541023,
          "code": "840505007",
          "description": "Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder)"
        },
        {
          "id": 541024,
          "code": "84711007",
          "description": "Anomaly of chromosome pair 4 (disorder)"
        },
        {
          "id": 541025,
          "code": "85589009",
          "description": "Radial aplasia-thrombocytopenia syndrome (disorder)"
        },
        {
          "id": 541026,
          "code": "85995004",
          "description": "Autosomal recessive hereditary disorder (disorder)"
        },
        {
          "id": 541027,
          "code": "8634009",
          "description": "Distichiasis-lymphedema syndrome (disorder)"
        },
        {
          "id": 541028,
          "code": "86426007",
          "description": "Dominant autosomal hereditary disorder, complete penetrance (disorder)"
        },
        {
          "id": 541029,
          "code": "86997002",
          "description": "Ring chromosome 10 syndrome (disorder)"
        },
        {
          "id": 541030,
          "code": "87006007",
          "description": "Dominant autosomal hereditary disorder, incomplete penetrance (disorder)"
        },
        {
          "id": 541031,
          "code": "8757006",
          "description": "Hecht syndrome (disorder)"
        },
        {
          "id": 541032,
          "code": "88154004",
          "description": "Ring chromosome 18 syndrome (disorder)"
        },
        {
          "id": 541033,
          "code": "88326002",
          "description": "16p partial trisomy syndrome (disorder)"
        },
        {
          "id": 541034,
          "code": "88469006",
          "description": "Zellweger syndrome (disorder)"
        },
        {
          "id": 541035,
          "code": "88894000",
          "description": "4q partial trisomy syndrome (disorder)"
        },
        {
          "id": 541036,
          "code": "89392001",
          "description": "Prader-Willi syndrome (disorder)"
        },
        {
          "id": 541037,
          "code": "89444000",
          "description": "Oromandibular-limb hypogenesis spectrum (disorder)"
        },
        {
          "id": 541038,
          "code": "90866007",
          "description": "3q partial trisomy syndrome (disorder)"
        },
        {
          "id": 541039,
          "code": "91064002",
          "description": "Warburg syndrome (disorder)"
        },
        {
          "id": 541040,
          "code": "93466004",
          "description": "Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)"
        },
        {
          "id": 541041,
          "code": "95198001",
          "description": "Pure gonadal dysgenesis 46,XX (disorder)"
        },
        {
          "id": 541042,
          "code": "95241002",
          "description": "Rhinocephaly (disorder)"
        },
        {
          "id": 541043,
          "code": "9527009",
          "description": "Tetrasomy 12p (disorder)"
        },
        {
          "id": 541044,
          "code": "95462004",
          "description": "Anomaly of sex chromosome (disorder)"
        },
        {
          "id": 541045,
          "code": "9839007",
          "description": "Anomaly of chromosome pair 20 (disorder)"
        }
      ]
    }
  ],
  "version_history": [
    {
      "version_id": 11532,
      "version_name": "Other congenital malformations and chromosomal abnormalities (SNOMED-CT)",
      "version_date": "2025-01-19T16:54:37.724677Z",
      "is_published": true,
      "is_latest": true
    }
  ]
}