[
  {
    "phenotype_id": "PH1712",
    "phenotype_version_id": 3637,
    "name": "Chronic paediatric conditions: Other congenital malformations and chromosomal abnormalities",
    "definition": "This code list is part of a set of harmonised code lists to identify chronic paediatric\nconditions across primary and secondary care datasets across the UK.\n\n- ICD-10 other congenital malformations and chromosomal abnormalities, not elsewhere classified (directly from ICD-10, not Hardelid 2014) mapped to SNOMED and Read v2 using CALIBER.\n- Excludes malformations of the respiratory tract, gastrointestinal tract, genitourinary tract, nervous system and endocrine glands (covered in respective system code lists).\n- Includes multisystem congenital syndromes, malformations and chromosomal abnormalities not covered elsewhere.\n\n### Methods\n\nChronic paediatric conditions were defined as health problems requiring medical follow-up\nfor more than 12 months in 50% or more of cases. Code lists were produced by mapping\nexisting ICD-10 codes for chronic paediatric conditions to SNOMED and Read v2 codes\nusing the CALIBER R package, with review by paediatric sub-specialists.\n\nAn established ICD-10 code list of chronic paediatric conditions (Hardelid 2014)\nwas used as the basis for the new lists.[1]  Chronic paediatric conditions were defined\nas any health problem requiring medical follow-up (hospital admission, outpatient\nfollow up or use of support services such as physiotherapy) for more than 12 months\nin 50% or more of cases.[1]  A Chronic Paediatric Conditions Committee of paediatric\nsub-specialists was established. The original ICD-10 list was screened by two paediatricians\nand acute conditions removed, with disagreements resolved by a third paediatrician.\nConditions which were likely acute and would not fulfil our chronic disease definition\nwere excluded, including skeletal injuries and self-harm. Drug-induced conditions\nwere excluded as chronicity was not known. Infections other than human immunodeficiency\nvirus (HIV), hepatitis B or C, or congenital infections (syphilis / toxoplasmosis\n/ rubella / herpes simplex virus / cytomegalovirus) were excluded. Chronic sequelae\nof infections were retained.\n\nPublished code lists were then identified for Read v2 and SNOMED codes for well-characterised\nconditions including asthma, diabetes, cystic fibrosis and cancer. The remaining\nICD-10 codes were mapped to SNOMED and Read v2 codes using the CALIBER R package\nand Technology Reference Update Distribution NHS Data Migration tables [2] to produce\nnew code lists suitable for primary care data. These resulting code lists were screened\nby two sub-specialists to ensure conditions were chronic and in the correct subgroup\nwith disagreements resolved by a third clinician.\n\n### References:\n\n1. Hardelid P, Dattani N, Gilbert R. Estimating the prevalence of chronic conditions in children who die in England, Scotland and Wales: a data linkage cohort study. BMJ Open 2014; 4: e005331.\n2. CALIBER codelists-package: Generate ICD, Read and OPCS codelists in CALIBER codelists: Generate ICD10, Read and OPCS codelists, [https://rdrr.io/rforge/CALIBERcodelists/man/CALIBERcodelists-package.html](https://rdrr.io/rforge/CALIBERcodelists/man/CALIBERcodelists-package.html) (accessed 19 October 2022).\n\n",
    "implementation": "We have considered conditions to be active if they had been coded for in the preceding\nfive years. In addition, conditions from the following subgroups were considered\nto be permanent, therefore active if coded for at any time: metabolic, diabetes,\ncystic fibrosis, transplant, receiving palliative care, other congenital multisystem\nsyndromes and chromosomal abnormalities, immunological and cerebral palsy / paralysis\n(a subgroup of \"Other neurology\" code list).\n",
    "publications": [],
    "validation": "",
    "citation_requirements": "To our knowledge, these are the first set of harmonised code lists for chronic paediatric\nconditions that span commonly used primary and secondary care coding systems in the\nUK. We hope they will prove a valuable resource for the paediatric research community\nand welcome suggestions for further development ([Olivia.Swann@ed.ac.uk](mailto:Olivia.Swann@ed.ac.uk)).\n",
    "created": "2025-01-19T16:54:37.779656Z",
    "author": "Swann OV, Williams TC, Fraser LK, Farrell J, Parker M, Kennedy J, Seabourne M, Brophy S, Harrison EM, Docherty AB, Pollock L",
    "collections": [
      {
        "name": "Phenotype Library",
        "value": 18
      }
    ],
    "tags": null,
    "organisation": null,
    "world_access": 2,
    "updated": "2025-01-19T16:54:37.761784Z",
    "sex": [
      {
        "name": "Both",
        "value": "3"
      }
    ],
    "type": [
      {
        "name": "Disease or syndrome",
        "value": "2"
      }
    ],
    "ontology": [
      {
        "name": "Paediatrics",
        "value": 842203
      },
      {
        "name": "Paediatric and Perinatal Pathology",
        "value": 842275
      }
    ],
    "phenoflowid": "",
    "data_sources": [
      {
        "name": "Hospital Episode Statistics Admitted Patient Care",
        "value": 2,
        "uid": "6599230a-df54-4615-937c-d724d239491f",
        "url": "https://healthdatagateway.org/en/dataset/875",
        "datasource_id": 875
      },
      {
        "name": "OpenSAFELY SNOMED CT",
        "value": 36,
        "datasource_id": 36
      },
      {
        "name": "Patient Episode Dataset for Wales (PEDW)",
        "value": 40,
        "uid": "4c33a5d2-164c-41d7-9797-dc2b008cc852",
        "url": "https://healthdatagateway.org/en/dataset/318",
        "datasource_id": 318
      },
      {
        "name": "Welsh Longitudinal General Practice Dataset (WLGP) - Welsh Primary Care",
        "value": 502,
        "uid": "33fc3ffd-aa4c-4a16-a32f-0c900aaea3d2",
        "url": "https://healthdatagateway.org/en/dataset/355",
        "datasource_id": 355
      }
    ],
    "coding_system": [
      {
        "name": "SNOMED  CT codes",
        "value": 9
      },
      {
        "name": "ICD10 codes",
        "value": 4
      },
      {
        "name": "Read codes v2",
        "value": 5
      }
    ],
    "event_date_range": "2021/01/01 - 2021/01/01",
    "concept_information": [
      {
        "concept_id": 4170,
        "concept_version_id": 11530,
        "concept_name": "Other congenital malformations and chromosomal abnormalities (ICD-10)",
        "coding_system": {
          "id": 4,
          "name": "ICD10 codes",
          "description": "ICD10 Codes"
        },
        "phenotype_id": "PH1712",
        "phenotype_version_id": 3637,
        "phenotype_name": "Chronic paediatric conditions: Other congenital malformations and chromosomal abnormalities",
        "code_attribute_header": null,
        "codes": [
          {
            "code": "Q87",
            "description": "Other specified congenital malformation syndromes affecting multiple systems",
            "attributes": null
          },
          {
            "code": "Q870",
            "description": "Congenital malformation syndromes predominantly affecting facial appearance",
            "attributes": null
          },
          {
            "code": "Q871",
            "description": "Congenital malformation syndromes predominantly associated with short stature",
            "attributes": null
          },
          {
            "code": "Q872",
            "description": "Congenital malformation syndromes predominantly involving limbs",
            "attributes": null
          },
          {
            "code": "Q873",
            "description": "Congenital malformation syndromes involving early overgrowth",
            "attributes": null
          },
          {
            "code": "Q874",
            "description": "Marfan syndrome",
            "attributes": null
          },
          {
            "code": "Q875",
            "description": "Other congenital malformation syndromes with other skeletal changes",
            "attributes": null
          },
          {
            "code": "Q878",
            "description": "Other+B28 specified congenital malformation syndromes, not elsewhere classified",
            "attributes": null
          },
          {
            "code": "Q90",
            "description": "Down syndrome",
            "attributes": null
          },
          {
            "code": "Q900",
            "description": "Trisomy 21, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "Q901",
            "description": "Trisomy 21, mosaicism (mitotic nondisjunction)",
            "attributes": null
          },
          {
            "code": "Q902",
            "description": "Trisomy 21, translocation",
            "attributes": null
          },
          {
            "code": "Q909",
            "description": "Down syndrome, unspecified",
            "attributes": null
          },
          {
            "code": "Q91",
            "description": "Edwards syndrome and Patau syndrome",
            "attributes": null
          },
          {
            "code": "Q910",
            "description": "Trisomy 18, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "Q911",
            "description": "Trisomy 18, mosaicism (mitotic nondisjunction)",
            "attributes": null
          },
          {
            "code": "Q912",
            "description": "Trisomy 18, translocation",
            "attributes": null
          },
          {
            "code": "Q913",
            "description": "Edwards syndrome, unspecified",
            "attributes": null
          },
          {
            "code": "Q914",
            "description": "Trisomy 13, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "Q915",
            "description": "Trisomy 13, mosaicism (mitotic nondisjunction)",
            "attributes": null
          },
          {
            "code": "Q916",
            "description": "Trisomy 13, translocation",
            "attributes": null
          },
          {
            "code": "Q917",
            "description": "Patau syndrome, unspecified",
            "attributes": null
          },
          {
            "code": "Q92",
            "description": "Other trisomies and partial trisomies of the autosomes, not elsewhere classified",
            "attributes": null
          },
          {
            "code": "Q920",
            "description": "Whole chromosome trisomy, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "Q921",
            "description": "Whole chromosome trisomy, mosaicism (mitotic nondisjunction)",
            "attributes": null
          },
          {
            "code": "Q922",
            "description": "Major partial trisomy",
            "attributes": null
          },
          {
            "code": "Q923",
            "description": "Minor partial trisomy",
            "attributes": null
          },
          {
            "code": "Q924",
            "description": "Duplications seen only at prometaphase",
            "attributes": null
          },
          {
            "code": "Q925",
            "description": "Duplications with other complex rearrangements",
            "attributes": null
          },
          {
            "code": "Q926",
            "description": "Extra marker chromosomes",
            "attributes": null
          },
          {
            "code": "Q927",
            "description": "Other specified trisomies and partial trisomies of autosomes",
            "attributes": null
          },
          {
            "code": "Q928",
            "description": "Trisomy and partial trisomy of autosomes, unspecified",
            "attributes": null
          },
          {
            "code": "Q929",
            "description": "Trisomy and partial trisomy of autosomes, unspecified",
            "attributes": null
          },
          {
            "code": "Q93",
            "description": "Monosomies and deletions from the autosomes, not elsewhere classified",
            "attributes": null
          },
          {
            "code": "Q930",
            "description": "Whole chromosome monosomy, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "Q931",
            "description": "Whole chromosome monosomy, mosaicism (mitotic nondisjunction)",
            "attributes": null
          },
          {
            "code": "Q932",
            "description": "Chromosome replaced with ring or dicentric",
            "attributes": null
          },
          {
            "code": "Q933",
            "description": "Deletion of short arm of chromosome 4",
            "attributes": null
          },
          {
            "code": "Q934",
            "description": "Deletion of short arm of chromosome 5",
            "attributes": null
          },
          {
            "code": "Q935",
            "description": "Other deletions of part of a chromosome",
            "attributes": null
          },
          {
            "code": "Q936",
            "description": "Deletions seen only at prometaphase",
            "attributes": null
          },
          {
            "code": "Q937",
            "description": "Deletions with other complex rearrangements",
            "attributes": null
          },
          {
            "code": "Q938",
            "description": "Other deletions from the autosomes",
            "attributes": null
          },
          {
            "code": "Q939",
            "description": "Deletion from autosomes, unspecified",
            "attributes": null
          },
          {
            "code": "Q952",
            "description": "Balanced autosomal rearrangement in abnormal individual",
            "attributes": null
          },
          {
            "code": "Q96",
            "description": "Turner syndrome",
            "attributes": null
          },
          {
            "code": "Q960",
            "description": "Karyotype 45,X",
            "attributes": null
          },
          {
            "code": "Q961",
            "description": "Karyotype 46,X iso (Xq)",
            "attributes": null
          },
          {
            "code": "Q962",
            "description": "Karyotype 46,X with abnormal sex chromosome, except iso (Xq)",
            "attributes": null
          },
          {
            "code": "Q963",
            "description": "Mosaicism, 45,X/46,XX or XY",
            "attributes": null
          },
          {
            "code": "Q964",
            "description": "Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome",
            "attributes": null
          },
          {
            "code": "Q968",
            "description": "Other variants of Turner syndrome",
            "attributes": null
          },
          {
            "code": "Q969",
            "description": "Turner syndrome, unspecified",
            "attributes": null
          },
          {
            "code": "Q97",
            "description": "Other sex chromosome abnormalities, female phenotype, not elsewhere classified",
            "attributes": null
          },
          {
            "code": "Q970",
            "description": "Karyotype 47,XXX",
            "attributes": null
          },
          {
            "code": "Q971",
            "description": "Female with more than three X chromosomes",
            "attributes": null
          },
          {
            "code": "Q972",
            "description": "Mosaicism, lines with various numbers of X chromosomes",
            "attributes": null
          },
          {
            "code": "Q973",
            "description": "Female with 46,XY karyotype",
            "attributes": null
          },
          {
            "code": "Q978",
            "description": "Other specified sex chromosome abnormalities, female phenotype",
            "attributes": null
          },
          {
            "code": "Q979",
            "description": "Sex chromosome abnormality, female phenotype, unspecified",
            "attributes": null
          },
          {
            "code": "Q980",
            "description": "Klinefelter syndrome karyotype 47,XXY",
            "attributes": null
          },
          {
            "code": "Q99",
            "description": "Other chromosome abnormalities, not elsewhere classified",
            "attributes": null
          },
          {
            "code": "Q990",
            "description": "Chimera 46,XX/46,XY",
            "attributes": null
          },
          {
            "code": "Q991",
            "description": "46,XX true hermaphrodite",
            "attributes": null
          },
          {
            "code": "Q992",
            "description": "Fragile X chromosome",
            "attributes": null
          },
          {
            "code": "Q998",
            "description": "Other specified chromosome abnormalities",
            "attributes": null
          },
          {
            "code": "Q999",
            "description": "Chromosomal abnormality, unspecified",
            "attributes": null
          }
        ]
      },
      {
        "concept_id": 4171,
        "concept_version_id": 11531,
        "concept_name": "Other congenital malformations and chromosomal abnormalities (Read v2)",
        "coding_system": {
          "id": 5,
          "name": "Read codes v2",
          "description": "Read codes v2"
        },
        "phenotype_id": "PH1712",
        "phenotype_version_id": 3637,
        "phenotype_name": "Chronic paediatric conditions: Other congenital malformations and chromosomal abnormalities",
        "code_attribute_header": null,
        "codes": [
          {
            "code": "B33z100",
            "description": "Naevoid basal cell carcinoma syndrome",
            "attributes": null
          },
          {
            "code": "B33z111",
            "description": "Basal cell naevus syndrome",
            "attributes": null
          },
          {
            "code": "C1zy200",
            "description": "Cerebral gigantism",
            "attributes": null
          },
          {
            "code": "C1zy211",
            "description": "Sotos syndrome",
            "attributes": null
          },
          {
            "code": "C302711",
            "description": "Klein-Waardenberg's syndrome",
            "attributes": null
          },
          {
            "code": "D313200",
            "description": "Thrombocytopenic purpura with absent radius",
            "attributes": null
          },
          {
            "code": "D313211",
            "description": "TAR syndrome",
            "attributes": null
          },
          {
            "code": "F1y0.00",
            "description": "Fragile X associated tremor ataxia syndrome",
            "attributes": null
          },
          {
            "code": "F326200",
            "description": "Moebius congenital oculofacial paralysis",
            "attributes": null
          },
          {
            "code": "K032400",
            "description": "Familial glomerulonephritis in Alport's syndrome",
            "attributes": null
          },
          {
            "code": "K032500",
            "description": "Other familial glomerulonephritis",
            "attributes": null
          },
          {
            "code": "K260.11",
            "description": "Young's syndrome",
            "attributes": null
          },
          {
            "code": "L251100",
            "description": "Fetus with chromosomal abnormality - delivered",
            "attributes": null
          },
          {
            "code": "L251200",
            "description": "Fetus with chromosomal abnormality with antenatal problem",
            "attributes": null
          },
          {
            "code": "P302.00",
            "description": "Cryptophthalmos syndrome",
            "attributes": null
          },
          {
            "code": "P342300",
            "description": "Peters-plus syndrome",
            "attributes": null
          },
          {
            "code": "PE00100",
            "description": "Asymmetrical crying face syndrome",
            "attributes": null
          },
          {
            "code": "PF55.00",
            "description": "Acrocephalosyndactyly",
            "attributes": null
          },
          {
            "code": "PF55000",
            "description": "Acrocephalosyndactyly (Apert)",
            "attributes": null
          },
          {
            "code": "PF55100",
            "description": "Acrocephalosyndactyly (Pfeiffer)",
            "attributes": null
          },
          {
            "code": "PF55.11",
            "description": "Apert's syndrome",
            "attributes": null
          },
          {
            "code": "PF55.12",
            "description": "Acrocephalopolysyndactyly",
            "attributes": null
          },
          {
            "code": "PF55200",
            "description": "Acrocephalopolysyndactyly",
            "attributes": null
          },
          {
            "code": "PF55300",
            "description": "Saethre-Chotzen syndrome",
            "attributes": null
          },
          {
            "code": "PG0C.00",
            "description": "Pierre - Robin syndrome",
            "attributes": null
          },
          {
            "code": "PG0E.11",
            "description": "Hallerman - Streif syndrome",
            "attributes": null
          },
          {
            "code": "PG0F.00",
            "description": "Goldenhar's syndrome",
            "attributes": null
          },
          {
            "code": "PG0J.00",
            "description": "Pierre Robin association",
            "attributes": null
          },
          {
            "code": "PG16000",
            "description": "Wilderwanck's syndrome",
            "attributes": null
          },
          {
            "code": "PG42.14",
            "description": "Chondrodystophy NEC",
            "attributes": null
          },
          {
            "code": "PG44300",
            "description": "Mesomelic dysplasia",
            "attributes": null
          },
          {
            "code": "PGy3.00",
            "description": "Nail-patella syndrome",
            "attributes": null
          },
          {
            "code": "PGy3.11",
            "description": "Osteo-onychodysostosis",
            "attributes": null
          },
          {
            "code": "PGy3.12",
            "description": "Onycho-osteodysplasia",
            "attributes": null
          },
          {
            "code": "PGyy300",
            "description": "Popliteal web syndrome",
            "attributes": null
          },
          {
            "code": "PH12.11",
            "description": "Sjogren - Larsson syndrome",
            "attributes": null
          },
          {
            "code": "PJ...00",
            "description": "Chromosomal anomalies",
            "attributes": null
          },
          {
            "code": "PJ0..00",
            "description": "Down's syndrome - trisomy 21",
            "attributes": null
          },
          {
            "code": "PJ00.00",
            "description": "Trisomy 21, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ01.00",
            "description": "Trisomy 21, mosaicism",
            "attributes": null
          },
          {
            "code": "PJ0..11",
            "description": "Mongolism",
            "attributes": null
          },
          {
            "code": "PJ01.11",
            "description": "Trisomy 21, mitotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ0..12",
            "description": "Trisomy 21",
            "attributes": null
          },
          {
            "code": "PJ0..13",
            "description": "Trisomy 22",
            "attributes": null
          },
          {
            "code": "PJ02.00",
            "description": "Trisomy 21, translocation",
            "attributes": null
          },
          {
            "code": "PJ02.11",
            "description": "Partial trisomy 21 in Down's syndrome",
            "attributes": null
          },
          {
            "code": "PJ0z.00",
            "description": "Down's syndrome NOS",
            "attributes": null
          },
          {
            "code": "PJ0z.11",
            "description": "Trisomy 21 NOS",
            "attributes": null
          },
          {
            "code": "PJ1..00",
            "description": "Patau's syndrome - trisomy 13",
            "attributes": null
          },
          {
            "code": "PJ10.00",
            "description": "Trisomy 13, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ11.00",
            "description": "Trisomy 13, mosaicism",
            "attributes": null
          },
          {
            "code": "PJ11.11",
            "description": "Trisomy 13, mitotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ12.00",
            "description": "Trisomy 13, translocation",
            "attributes": null
          },
          {
            "code": "PJ12.11",
            "description": "Partial trisomy 13 in Patau's syndrome",
            "attributes": null
          },
          {
            "code": "PJ1z.00",
            "description": "Patau's syndrome NOS",
            "attributes": null
          },
          {
            "code": "PJ1z.11",
            "description": "Trisomy 13 NOS",
            "attributes": null
          },
          {
            "code": "PJ2..00",
            "description": "Edward's syndrome - trisomy 18",
            "attributes": null
          },
          {
            "code": "PJ20.00",
            "description": "Trisomy 18, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ21.00",
            "description": "Trisomy 18, mosaicism",
            "attributes": null
          },
          {
            "code": "PJ21.11",
            "description": "Trisomy 18, mitotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ22.00",
            "description": "Trisomy 18, translocation",
            "attributes": null
          },
          {
            "code": "PJ22.11",
            "description": "Partial trisomy 18 in Edward's syndrome",
            "attributes": null
          },
          {
            "code": "PJ2z.00",
            "description": "Edward's syndrome NOS",
            "attributes": null
          },
          {
            "code": "PJ2z.11",
            "description": "TRISOMY 18 NOS",
            "attributes": null
          },
          {
            "code": "PJ3..00",
            "description": "Monosomies and deletions from the autosomes",
            "attributes": null
          },
          {
            "code": "PJ30.00",
            "description": "Antimongolism syndrome",
            "attributes": null
          },
          {
            "code": "PJ30.11",
            "description": "Deletion of long arm of chromosome 21",
            "attributes": null
          },
          {
            "code": "PJ31.00",
            "description": "Cri-du-chat syndrome",
            "attributes": null
          },
          {
            "code": "PJ31.11",
            "description": "Deletion of short arm of chromosome 5",
            "attributes": null
          },
          {
            "code": "PJ32.00",
            "description": "Deletion of short arm of chromosome 4",
            "attributes": null
          },
          {
            "code": "PJ32.11",
            "description": "Wolff - Hirschorn syndrome",
            "attributes": null
          },
          {
            "code": "PJ33.00",
            "description": "Other deletions of part of a chromosome",
            "attributes": null
          },
          {
            "code": "PJ33000",
            "description": "Deletion of long arm of chromosome 13",
            "attributes": null
          },
          {
            "code": "PJ33100",
            "description": "Deletion of long arm of chromosome 18",
            "attributes": null
          },
          {
            "code": "PJ33111",
            "description": "18p- syndrome",
            "attributes": null
          },
          {
            "code": "PJ33112",
            "description": "18q- syndrome",
            "attributes": null
          },
          {
            "code": "PJ33113",
            "description": "18q deletion syndrome",
            "attributes": null
          },
          {
            "code": "PJ33200",
            "description": "Deletion of short arm of chromosome 18",
            "attributes": null
          },
          {
            "code": "PJ33211",
            "description": "18q- syndrome",
            "attributes": null
          },
          {
            "code": "PJ33212",
            "description": "18p- syndrome",
            "attributes": null
          },
          {
            "code": "PJ33300",
            "description": "Smith-Magenis syndrome",
            "attributes": null
          },
          {
            "code": "PJ33400",
            "description": "Jacobsen syndrome",
            "attributes": null
          },
          {
            "code": "PJ33500",
            "description": "Greig cephalopolysyndactyly syndrome",
            "attributes": null
          },
          {
            "code": "PJ33600",
            "description": "Chromosome 22q11 deletion syndrome",
            "attributes": null
          },
          {
            "code": "PJ33700",
            "description": "3p deletion syndrome",
            "attributes": null
          },
          {
            "code": "PJ33800",
            "description": "Chromosome 4q deletion syndrome",
            "attributes": null
          },
          {
            "code": "PJ33900",
            "description": "Langer-Giedion syndrome",
            "attributes": null
          },
          {
            "code": "PJ33A00",
            "description": "Kleefstra syndrome",
            "attributes": null
          },
          {
            "code": "PJ33z00",
            "description": "Other deletion of part of a chromosome NOS",
            "attributes": null
          },
          {
            "code": "PJ34.00",
            "description": "Deletions seen only at prometaphase",
            "attributes": null
          },
          {
            "code": "PJ35.00",
            "description": "Deletions with other complex rearrangements",
            "attributes": null
          },
          {
            "code": "PJ36.00",
            "description": "Whole chromosome monosomy, meiotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ37.00",
            "description": "Whole chromosome monosomy, mosaicism",
            "attributes": null
          },
          {
            "code": "PJ37000",
            "description": "Monosomy 21, mosaicism",
            "attributes": null
          },
          {
            "code": "PJ37.11",
            "description": "Whole chromosome monosomy, mitotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ37.12",
            "description": "Autosomal deletion - mosaicism",
            "attributes": null
          },
          {
            "code": "PJ37z00",
            "description": "Whole chromosome monosomy, mosaicism NOS",
            "attributes": null
          },
          {
            "code": "PJ38.00",
            "description": "Chromosome replaced with ring or dicentric",
            "attributes": null
          },
          {
            "code": "PJ38.11",
            "description": "Chromosome replaced with dicentric",
            "attributes": null
          },
          {
            "code": "PJ38.12",
            "description": "Chromosome replaced with ring",
            "attributes": null
          },
          {
            "code": "PJ3y.00",
            "description": "Other deletions from the autosomes",
            "attributes": null
          },
          {
            "code": "PJ3z.00",
            "description": "Monosomies and deletions from the autosomes NOS",
            "attributes": null
          },
          {
            "code": "PJ5..00",
            "description": "Other condition due to autosomal anomaly",
            "attributes": null
          },
          {
            "code": "PJ50.00",
            "description": "Whole chromosome trisomy syndromes",
            "attributes": null
          },
          {
            "code": "PJ50000",
            "description": "Trisomy 6",
            "attributes": null
          },
          {
            "code": "PJ50100",
            "description": "Trisomy 7",
            "attributes": null
          },
          {
            "code": "PJ50200",
            "description": "Trisomy 8",
            "attributes": null
          },
          {
            "code": "PJ50300",
            "description": "Trisomy 9",
            "attributes": null
          },
          {
            "code": "PJ50311",
            "description": "Trisomy 9 Mosaic Syndrome",
            "attributes": null
          },
          {
            "code": "PJ50400",
            "description": "Trisomy 10",
            "attributes": null
          },
          {
            "code": "PJ50500",
            "description": "Trisomy 11",
            "attributes": null
          },
          {
            "code": "PJ50600",
            "description": "Trisomy 12",
            "attributes": null
          },
          {
            "code": "PJ50700",
            "description": "Other trisomy C syndromes",
            "attributes": null
          },
          {
            "code": "PJ50800",
            "description": "Trisomy 22",
            "attributes": null
          },
          {
            "code": "PJ50w00",
            "description": "Whole chromosome trisomy, meitotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ50x00",
            "description": "Whole chromosome trisomy, mosaicism",
            "attributes": null
          },
          {
            "code": "PJ50x11",
            "description": "Whole chromosome trisomy, mitotic nondisjunction",
            "attributes": null
          },
          {
            "code": "PJ50y00",
            "description": "Other specified whole chromosome trisomy syndrome",
            "attributes": null
          },
          {
            "code": "PJ50z00",
            "description": "Whole chromosome trisomy syndrome NOS",
            "attributes": null
          },
          {
            "code": "PJ51.00",
            "description": "Partial trisomy syndromes",
            "attributes": null
          },
          {
            "code": "PJ51000",
            "description": "Major partial trisomy",
            "attributes": null
          },
          {
            "code": "PJ51100",
            "description": "Minor partial trisomy",
            "attributes": null
          },
          {
            "code": "PJ51200",
            "description": "10q partial trisomy syndrome",
            "attributes": null
          },
          {
            "code": "PJ51211",
            "description": "Duplication 10q syndrome",
            "attributes": null
          },
          {
            "code": "PJ51300",
            "description": "Trisomy 4p syndrome",
            "attributes": null
          },
          {
            "code": "PJ51311",
            "description": "4p duplication syndrome",
            "attributes": null
          },
          {
            "code": "PJ51400",
            "description": "Trisomy 9p syndrome",
            "attributes": null
          },
          {
            "code": "PJ51411",
            "description": "9p duplication syndrome",
            "attributes": null
          },
          {
            "code": "PJ51500",
            "description": "15q partial trisomy syndrome",
            "attributes": null
          },
          {
            "code": "PJ51511",
            "description": "Duplication 15q syndrome",
            "attributes": null
          },
          {
            "code": "PJ51z00",
            "description": "Partial trisomy syndrome NOS",
            "attributes": null
          },
          {
            "code": "PJ52.00",
            "description": "Trisomies of autosomes NEC",
            "attributes": null
          },
          {
            "code": "PJ52000",
            "description": "Duplications seen only at prometaphase",
            "attributes": null
          },
          {
            "code": "PJ52100",
            "description": "Duplications with other complex rearrangements",
            "attributes": null
          },
          {
            "code": "PJ52200",
            "description": "Extra marker chromosomes",
            "attributes": null
          },
          {
            "code": "PJ52300",
            "description": "Triploidy",
            "attributes": null
          },
          {
            "code": "PJ52400",
            "description": "Polyploidy",
            "attributes": null
          },
          {
            "code": "PJ52z00",
            "description": "Trisomy of autosomes NEC NOS",
            "attributes": null
          },
          {
            "code": "PJ53100",
            "description": "Balanced autosomal rearrangement in abnormal individual",
            "attributes": null
          },
          {
            "code": "PJ5y.00",
            "description": "Other specified conditions due to autosomal anomalies",
            "attributes": null
          },
          {
            "code": "PJ5y.11",
            "description": "Pseudotrisomy 18",
            "attributes": null
          },
          {
            "code": "PJ5z.00",
            "description": "Unspecified conditions due to autosomal anomalies",
            "attributes": null
          },
          {
            "code": "PJ5z.11",
            "description": "Aneuploidy NEC",
            "attributes": null
          },
          {
            "code": "PJ6..00",
            "description": "Gonadal dysgenesis",
            "attributes": null
          },
          {
            "code": "PJ60.00",
            "description": "Mixed gonadal dysgenesis",
            "attributes": null
          },
          {
            "code": "PJ62.00",
            "description": "Ovarian dysgenesis",
            "attributes": null
          },
          {
            "code": "PJ63.00",
            "description": "Turner's syndrome",
            "attributes": null
          },
          {
            "code": "PJ63000",
            "description": "Turner's phenotype, karyotype normal",
            "attributes": null
          },
          {
            "code": "PJ63100",
            "description": "Turner's phenotype, karyotype 45X",
            "attributes": null
          },
          {
            "code": "PJ63200",
            "description": "Turner's phenotype, karyotype 46X iso (Xq)",
            "attributes": null
          },
          {
            "code": "PJ63300",
            "description": "Turner's phenotype, karyotype 46X with abnormal sex chromosome, except iso (Xq)",
            "attributes": null
          },
          {
            "code": "PJ63400",
            "description": "Turner's phenotype, mosaicism 45X/46XX or 45X/46XY",
            "attributes": null
          },
          {
            "code": "PJ63500",
            "description": "Turner's phenotype, mosaicism, 45X/other cell line with abnormal sex chromosome",
            "attributes": null
          },
          {
            "code": "PJ63600",
            "description": "Turner's phenotype, other variant karyotypes",
            "attributes": null
          },
          {
            "code": "PJ63611",
            "description": "Turner's phenotype, ring chromosome karyotype",
            "attributes": null
          },
          {
            "code": "PJ63612",
            "description": "Turner's phenotype, partial X deletion karyotype",
            "attributes": null
          },
          {
            "code": "PJ63z00",
            "description": "Turner's syndrome NOS",
            "attributes": null
          },
          {
            "code": "PJ63z11",
            "description": "Bonnevie-Ullrich syndrome NOS",
            "attributes": null
          },
          {
            "code": "PJ63z12",
            "description": "Ovarian dwarfism NEC",
            "attributes": null
          },
          {
            "code": "PJ64.00",
            "description": "Other gonadal dysgenesis phenotype",
            "attributes": null
          },
          {
            "code": "PJ64000",
            "description": "XY, female phenotype",
            "attributes": null
          },
          {
            "code": "PJ64z00",
            "description": "Other gonadal dysgenesis phenotype NOS",
            "attributes": null
          },
          {
            "code": "PJ6z.00",
            "description": "Gonadal dysgenesis NOS",
            "attributes": null
          },
          {
            "code": "PJy..00",
            "description": "Other sex chromosome anomaly",
            "attributes": null
          },
          {
            "code": "PJy1.00",
            "description": "Sex chromosome mosaicism",
            "attributes": null
          },
          {
            "code": "PJy1000",
            "description": "Mosaic XO/XY",
            "attributes": null
          },
          {
            "code": "PJy1200",
            "description": "Mosaic XY/XXY",
            "attributes": null
          },
          {
            "code": "PJy1300",
            "description": "Mosaic including XXXXY",
            "attributes": null
          },
          {
            "code": "PJy1z00",
            "description": "Sex chromosome mosaicism NOS",
            "attributes": null
          },
          {
            "code": "PJy2.00",
            "description": "XXX syndrome",
            "attributes": null
          },
          {
            "code": "PJy2.11",
            "description": "Triple X female",
            "attributes": null
          },
          {
            "code": "PJy2.12",
            "description": "Karyotype 47, XXX",
            "attributes": null
          },
          {
            "code": "PJy4.00",
            "description": "Female with more than three X chromosomes",
            "attributes": null
          },
          {
            "code": "PJy5.00",
            "description": "Mosaicism, lines with various numbers of X chromosomes",
            "attributes": null
          },
          {
            "code": "PJyy.00",
            "description": "Other specified sex chromosome anomaly",
            "attributes": null
          },
          {
            "code": "PJyy000",
            "description": "Chimera 46XX/46XY",
            "attributes": null
          },
          {
            "code": "PJyy011",
            "description": "Chimera 46XX/46XY, true hermaphrodite",
            "attributes": null
          },
          {
            "code": "PJyy100",
            "description": "46XX true hermaphrodite",
            "attributes": null
          },
          {
            "code": "PJyy.11",
            "description": "Absence of sex chromosome",
            "attributes": null
          },
          {
            "code": "PJyy200",
            "description": "Fragile X chromosome",
            "attributes": null
          },
          {
            "code": "PJyy400",
            "description": "Fragile X syndrome",
            "attributes": null
          },
          {
            "code": "PJyyz00",
            "description": "Other sex chromosome abnormality NOS",
            "attributes": null
          },
          {
            "code": "PJyz.00",
            "description": "Sex chromosome anomaly NOS",
            "attributes": null
          },
          {
            "code": "PJz..00",
            "description": "Chromosomal anomalies NOS",
            "attributes": null
          },
          {
            "code": "PJz0.00",
            "description": "Mosaicism NOS",
            "attributes": null
          },
          {
            "code": "PJz1.00",
            "description": "Additional chromosome NOS",
            "attributes": null
          },
          {
            "code": "PJz2.00",
            "description": "Deletion of chromosome NOS",
            "attributes": null
          },
          {
            "code": "PJz3.00",
            "description": "Duplication of chromosome",
            "attributes": null
          },
          {
            "code": "PJz3100",
            "description": "MeCP2 duplication syndrome",
            "attributes": null
          },
          {
            "code": "PJzz.00",
            "description": "Conditions due to anomaly of unspecified chromosome NOS",
            "attributes": null
          },
          {
            "code": "PK64.00",
            "description": "Proteus syndrome",
            "attributes": null
          },
          {
            "code": "PKy0000",
            "description": "Bannayan-Riley-Ruvalcaba syndrome",
            "attributes": null
          },
          {
            "code": "PKy0100",
            "description": "Currarino triad",
            "attributes": null
          },
          {
            "code": "PKy0.11",
            "description": "Prader-Willi Syndrome",
            "attributes": null
          },
          {
            "code": "PKy0.12",
            "description": "Prader-Willi syndrome",
            "attributes": null
          },
          {
            "code": "PKy0.13",
            "description": "Noonan's syndrome",
            "attributes": null
          },
          {
            "code": "PKy0200",
            "description": "Adams-Oliver syndrome",
            "attributes": null
          },
          {
            "code": "PKy0300",
            "description": "Weaver syndrome",
            "attributes": null
          },
          {
            "code": "PKy0400",
            "description": "Marshall-Smith syndrome",
            "attributes": null
          },
          {
            "code": "PKy0600",
            "description": "Feingold syndrome",
            "attributes": null
          },
          {
            "code": "PKy1.00",
            "description": "Laurence-Moon-Biedl syndrome",
            "attributes": null
          },
          {
            "code": "PKy1.11",
            "description": "Biedl-Bardet syndrome",
            "attributes": null
          },
          {
            "code": "PKy2.00",
            "description": "Marfan's syndrome",
            "attributes": null
          },
          {
            "code": "PKy4.00",
            "description": "William syndrome",
            "attributes": null
          },
          {
            "code": "PKy5.00",
            "description": "Congenital malformation syndromes affecting facial appearance",
            "attributes": null
          },
          {
            "code": "PKy5000",
            "description": "Oral - facial - digital syndrome",
            "attributes": null
          },
          {
            "code": "PKy5011",
            "description": "Papillon-Leage-Psaume syndrome",
            "attributes": null
          },
          {
            "code": "PKy5100",
            "description": "Mohr's syndrome",
            "attributes": null
          },
          {
            "code": "PKy5200",
            "description": "Cyclops",
            "attributes": null
          },
          {
            "code": "PKy5300",
            "description": "Whistling face syndrome",
            "attributes": null
          },
          {
            "code": "PKy5311",
            "description": "Freeman Sheldon syndrome",
            "attributes": null
          },
          {
            "code": "PKy5500",
            "description": "Gorlin-Chaudhry-Moss syndrome",
            "attributes": null
          },
          {
            "code": "PKy5600",
            "description": "Marchesani syndrome",
            "attributes": null
          },
          {
            "code": "PKy5611",
            "description": "Weill-Marchesani syndrome",
            "attributes": null
          },
          {
            "code": "PKy5612",
            "description": "Spherophakia-brachymorphia syndrome",
            "attributes": null
          },
          {
            "code": "PKy5700",
            "description": "Otopalatodigital syndrome",
            "attributes": null
          },
          {
            "code": "PKy5900",
            "description": "Oculo-palato-digital syndrome",
            "attributes": null
          },
          {
            "code": "PKy5A00",
            "description": "Trichorhinophalangeal syndrome",
            "attributes": null
          },
          {
            "code": "PKy5B00",
            "description": "Costello syndrome",
            "attributes": null
          },
          {
            "code": "PKy5D00",
            "description": "Kabuki make-up syndrome",
            "attributes": null
          },
          {
            "code": "PKy5E00",
            "description": "Branchio-otorenal dysplasia",
            "attributes": null
          },
          {
            "code": "PKy5F00",
            "description": "Coffin-Lowry syndrome",
            "attributes": null
          },
          {
            "code": "PKy5G00",
            "description": "Carey Fineman Ziter syndrome",
            "attributes": null
          },
          {
            "code": "PKy5H00",
            "description": "Simpson-Golabi-Behmel syndrome",
            "attributes": null
          },
          {
            "code": "PKy5K00",
            "description": "Cohen syndrome",
            "attributes": null
          },
          {
            "code": "PKy5L00",
            "description": "Cardio-facio-cutaneous syndrome",
            "attributes": null
          },
          {
            "code": "PKy5M00",
            "description": "Oculofaciocardiodental syndrome",
            "attributes": null
          },
          {
            "code": "PKy5z00",
            "description": "Congenital malformation syndrome affecting facial appearance NOS",
            "attributes": null
          },
          {
            "code": "PKy6.00",
            "description": "Congenital malformation syndromes associated with short stature",
            "attributes": null
          },
          {
            "code": "PKy6000",
            "description": "Amsterdam dwarf",
            "attributes": null
          },
          {
            "code": "PKy6011",
            "description": "Cornelia de Lange syndrome",
            "attributes": null
          },
          {
            "code": "PKy6012",
            "description": "Bruck-de Lange syndrome",
            "attributes": null
          },
          {
            "code": "PKy6013",
            "description": "Degenerative amsterodamensis typus",
            "attributes": null
          },
          {
            "code": "PKy6100",
            "description": "Cockayne syndrome",
            "attributes": null
          },
          {
            "code": "PKy6200",
            "description": "Russell - Silver syndrome",
            "attributes": null
          },
          {
            "code": "PKy6300",
            "description": "Smith - Lemli - Opitz syndrome",
            "attributes": null
          },
          {
            "code": "PKy6400",
            "description": "Seckel syndrome",
            "attributes": null
          },
          {
            "code": "PKy6500",
            "description": "Aarskog syndrome",
            "attributes": null
          },
          {
            "code": "PKy6600",
            "description": "Dubowitz syndrome",
            "attributes": null
          },
          {
            "code": "PKy6700",
            "description": "Robinow syndrome",
            "attributes": null
          },
          {
            "code": "PKy6800",
            "description": "Floating-Harbor syndrome",
            "attributes": null
          },
          {
            "code": "PKy6900",
            "description": "Borjeson-Forssman-Lehmann syndrome",
            "attributes": null
          },
          {
            "code": "PKy6z00",
            "description": "Congenital malformation syndrome associated with short stature NOS",
            "attributes": null
          },
          {
            "code": "PKy7.00",
            "description": "Congenital malformation syndromes involving limbs",
            "attributes": null
          },
          {
            "code": "PKy7000",
            "description": "Carpenter's syndrome",
            "attributes": null
          },
          {
            "code": "PKy7100",
            "description": "Holt - Oram syndrome",
            "attributes": null
          },
          {
            "code": "PKy7200",
            "description": "Klippel - Trenaunay - Weber syndrome",
            "attributes": null
          },
          {
            "code": "PKy7300",
            "description": "Rubenstein - Tayi syndrome",
            "attributes": null
          },
          {
            "code": "PKy7311",
            "description": "Rubinstein-Taybi syndrome",
            "attributes": null
          },
          {
            "code": "PKy7400",
            "description": "Sirenomelia",
            "attributes": null
          },
          {
            "code": "PKy7411",
            "description": "Sympus",
            "attributes": null
          },
          {
            "code": "PKy7412",
            "description": "Mermaid sirenomelia",
            "attributes": null
          },
          {
            "code": "PKy7600",
            "description": "Aglossia - adactyly syndrome",
            "attributes": null
          },
          {
            "code": "PKy7611",
            "description": "Hanhart syndrome",
            "attributes": null
          },
          {
            "code": "PKy7700",
            "description": "Caudal dysplasia sequence",
            "attributes": null
          },
          {
            "code": "PKy7900",
            "description": "Popliteal pterygium syndrome",
            "attributes": null
          },
          {
            "code": "PKy7A00",
            "description": "Congenital contractural arachnodactyly",
            "attributes": null
          },
          {
            "code": "PKy7A11",
            "description": "Beals syndrome",
            "attributes": null
          },
          {
            "code": "PKy7B00",
            "description": "Stickler syndrome",
            "attributes": null
          },
          {
            "code": "PKy7z00",
            "description": "Congenital malformation syndrome involving limbs NOS",
            "attributes": null
          },
          {
            "code": "PKy8000",
            "description": "Noonan's syndrome",
            "attributes": null
          },
          {
            "code": "PKy8z00",
            "description": "Congenital malformation syndrome with other skeletal changes NOS",
            "attributes": null
          },
          {
            "code": "PKy9.00",
            "description": "Congenital malformation syndromes with metabolic disturbances",
            "attributes": null
          },
          {
            "code": "PKy9000",
            "description": "Alport's syndrome",
            "attributes": null
          },
          {
            "code": "PKy9100",
            "description": "Beckwith's syndrome",
            "attributes": null
          },
          {
            "code": "PKy9111",
            "description": "Wiedemann - Beckwith syndrome",
            "attributes": null
          },
          {
            "code": "PKy9300",
            "description": "Prader - Willi syndrome",
            "attributes": null
          },
          {
            "code": "PKy9400",
            "description": "Zellweger's syndrome",
            "attributes": null
          },
          {
            "code": "PKy9500",
            "description": "Biemond's syndrome",
            "attributes": null
          },
          {
            "code": "PKy9600",
            "description": "VATER association",
            "attributes": null
          },
          {
            "code": "PKy9z00",
            "description": "Congenital malformation syndrome with metabolic disturbance NOS",
            "attributes": null
          },
          {
            "code": "PKyB.00",
            "description": "CHARGE association",
            "attributes": null
          },
          {
            "code": "PKyB.11",
            "description": "CHARGE syndrome",
            "attributes": null
          },
          {
            "code": "PKyB.12",
            "description": "Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association",
            "attributes": null
          },
          {
            "code": "PKyC.00",
            "description": "Pena-Shokeir syndrome type I",
            "attributes": null
          },
          {
            "code": "PKyD.00",
            "description": "Nicolaides-Baraitser syndrome",
            "attributes": null
          },
          {
            "code": "PKyF.00",
            "description": "Alstrom syndrome",
            "attributes": null
          },
          {
            "code": "PKyG.00",
            "description": "Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth",
            "attributes": null
          },
          {
            "code": "PKyG.11",
            "description": "Ohdo blepharophimosis syndrome",
            "attributes": null
          },
          {
            "code": "PKyH.00",
            "description": "Moulded baby syndrome",
            "attributes": null
          },
          {
            "code": "PKyJ.00",
            "description": "Lujan-Fryns syndrome",
            "attributes": null
          },
          {
            "code": "PKyK.00",
            "description": "Loeys-Dietz syndrome",
            "attributes": null
          },
          {
            "code": "PKyL.00",
            "description": "FG syndrome",
            "attributes": null
          },
          {
            "code": "PKyL.11",
            "description": "Opitz-Kaveggia syndrome",
            "attributes": null
          },
          {
            "code": "PKyM.00",
            "description": "Johanson-Blizzard syndrome",
            "attributes": null
          },
          {
            "code": "PKyN.00",
            "description": "Marden-Walker syndrome",
            "attributes": null
          },
          {
            "code": "PKyz000",
            "description": "Ullrich - Feichtiger syndrome, chimaera",
            "attributes": null
          },
          {
            "code": "PKyz.11",
            "description": "Cockayne's syndrome",
            "attributes": null
          },
          {
            "code": "PKyz500",
            "description": "Happy puppet syndrome",
            "attributes": null
          },
          {
            "code": "PKyz511",
            "description": "Angelman syndrome",
            "attributes": null
          },
          {
            "code": "PKyz600",
            "description": "Congenital hemihypertrophy",
            "attributes": null
          },
          {
            "code": "PKyz700",
            "description": "Angelman's syndrome",
            "attributes": null
          },
          {
            "code": "PKyz711",
            "description": "Angelman syndrome",
            "attributes": null
          },
          {
            "code": "Pyu9900",
            "description": "[X]Other congenital malformation syndromes with other skeletal changes",
            "attributes": null
          },
          {
            "code": "PyuA.00",
            "description": "[X]Chromosomal abnormalities, not elswhere classified",
            "attributes": null
          },
          {
            "code": "PyuA000",
            "description": "[X]Other specified trisomies and partial trisomies of autosomes",
            "attributes": null
          },
          {
            "code": "PyuA100",
            "description": "[X]Other deletions of part of a chromosome",
            "attributes": null
          },
          {
            "code": "PyuA200",
            "description": "[X]Other deletions from the autosomes",
            "attributes": null
          },
          {
            "code": "PyuA500",
            "description": "[X]Other variants of Turner's syndrome",
            "attributes": null
          },
          {
            "code": "PyuA600",
            "description": "[X]Other specified sex chromosome abnormalities, female phenotype",
            "attributes": null
          },
          {
            "code": "PyuA900",
            "description": "[X]Other specified chromosome abnormalities",
            "attributes": null
          },
          {
            "code": "PyuAB00",
            "description": "[X]Pallister-Killian syndrome",
            "attributes": null
          },
          {
            "code": "PyuAC00",
            "description": "[X]Townes-Brocks syndrome",
            "attributes": null
          },
          {
            "code": "PyuAD00",
            "description": "[X]Li-Fraumeni syndrome",
            "attributes": null
          }
        ]
      },
      {
        "concept_id": 4172,
        "concept_version_id": 11532,
        "concept_name": "Other congenital malformations and chromosomal abnormalities (SNOMED-CT)",
        "coding_system": {
          "id": 9,
          "name": "SNOMED  CT codes",
          "description": "SNOMED CT codes"
        },
        "phenotype_id": "PH1712",
        "phenotype_version_id": 3637,
        "phenotype_name": "Chronic paediatric conditions: Other congenital malformations and chromosomal abnormalities",
        "code_attribute_header": null,
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            "attributes": null
          },
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            "attributes": null
          },
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            "description": "Four X syndrome (disorder)",
            "attributes": null
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          {
            "code": "10572007",
            "description": "13q partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "111303009",
            "description": "Sjögren-Larsson syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "111309008",
            "description": "8q partial trisomy syndrome (disorder)",
            "attributes": null
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          {
            "code": "111310003",
            "description": "Ring chromosome 11 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "111311004",
            "description": "20p partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "111312006",
            "description": "Anomaly of chromosome X (disorder)",
            "attributes": null
          },
          {
            "code": "11164009",
            "description": "Autosomal dominant hereditary disorder (disorder)",
            "attributes": null
          },
          {
            "code": "123644009",
            "description": "Gynandromorphism syndrome (disorder)",
            "attributes": null
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          {
            "code": "123645005",
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            "attributes": null
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          {
            "code": "123646006",
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            "attributes": null
          },
          {
            "code": "123647002",
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            "attributes": null
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          {
            "code": "123648007",
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            "attributes": null
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          {
            "code": "123649004",
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            "attributes": null
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          {
            "code": "123650004",
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            "attributes": null
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          {
            "code": "123651000",
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            "attributes": null
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            "code": "123652007",
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          {
            "code": "125491000119103",
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            "attributes": null
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          {
            "code": "125501000119105",
            "description": "Fetus with complete trisomy 21 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "125511000119108",
            "description": "Fetus with complete trisomy 18 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "125521000119101",
            "description": "Fetus with complete trisomy 13 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "1280009",
            "description": "Isologous chimera (disorder)",
            "attributes": null
          },
          {
            "code": "13280000",
            "description": "Femoral hypoplasia - unusual facies syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "13555004",
            "description": "Ring chromosome 22 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "13674001",
            "description": "Anomaly of chromosome pair 3 (disorder)",
            "attributes": null
          },
          {
            "code": "14091009",
            "description": "12p partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "1479009",
            "description": "20q partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "14921002",
            "description": "Aarskog syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "15069006",
            "description": "Russell-Silver syndrome (disorder)",
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          },
          {
            "code": "15182000",
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            "attributes": null
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          {
            "code": "15228007",
            "description": "Atrophia bulborum hereditaria (disorder)",
            "attributes": null
          },
          {
            "code": "15557005",
            "description": "First arch syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "15841002",
            "description": "21q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "15960021000119107",
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            "attributes": null
          },
          {
            "code": "15993551000119100",
            "description": "Disorder of eye co-occurrent and due to Marfan syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "16055631000119106",
            "description": "Disorder of cardiovascular system co-occurrent and due to Marfan syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "16129004",
            "description": "10q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "16569009",
            "description": "Anomaly of chromosome pair 15 (disorder)",
            "attributes": null
          },
          {
            "code": "17122004",
            "description": "4p partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "17608003",
            "description": "Child syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "17760001",
            "description": "Anomaly of chromosome pair 13 (disorder)",
            "attributes": null
          },
          {
            "code": "1779005",
            "description": "Mohr syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "18077009",
            "description": "Trichorhinophalangeal syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "18899000",
            "description": "Schinzel-Giedion syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "1899006",
            "description": "Autosomal hereditary disorder (disorder)",
            "attributes": null
          },
          {
            "code": "19092004",
            "description": "Holt-Oram syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "19346006",
            "description": "Marfan's syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "19419002",
            "description": "8p partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "19550003",
            "description": "22q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "199526007",
            "description": "Fetus with chromosomal abnormality - delivered (disorder)",
            "attributes": null
          },
          {
            "code": "199527003",
            "description": "Fetus with chromosomal abnormality with antenatal problem (disorder)",
            "attributes": null
          },
          {
            "code": "20348002",
            "description": "14q partial distal trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "204102004",
            "description": "Cryptophthalmos syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "205258009",
            "description": "Acrocephalosyndactyly type I (disorder)",
            "attributes": null
          },
          {
            "code": "205260006",
            "description": "Acrocephalopolysyndactyly (disorder)",
            "attributes": null
          },
          {
            "code": "205418005",
            "description": "Goldenhar syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "205473008",
            "description": "Mesomelic dysplasia (disorder)",
            "attributes": null
          },
          {
            "code": "205615000",
            "description": "Trisomy 21- meiotic nondisjunction (disorder)",
            "attributes": null
          },
          {
            "code": "205616004",
            "description": "Trisomy 21- mitotic nondisjunction mosaicism (disorder)",
            "attributes": null
          },
          {
            "code": "205619006",
            "description": "Trisomy 13, meiotic nondisjunction (disorder)",
            "attributes": null
          },
          {
            "code": "205620000",
            "description": "Trisomy 13 - mitotic nondisjunction mosaicism (disorder)",
            "attributes": null
          },
          {
            "code": "205623003",
            "description": "Trisomy 18 - meiotic nondisjunction (disorder)",
            "attributes": null
          },
          {
            "code": "205624009",
            "description": "Trisomy 18 - mitotic nondisjunction mosaicism (disorder)",
            "attributes": null
          },
          {
            "code": "205627002",
            "description": "Monosomy and deletion from autosome (disorder)",
            "attributes": null
          },
          {
            "code": "205630009",
            "description": "Deletion of long arm of chromosome 13 (disorder)",
            "attributes": null
          },
          {
            "code": "205634000",
            "description": "Deletion seen only at prometaphase (disorder)",
            "attributes": null
          },
          {
            "code": "205636003",
            "description": "Whole chromosome monosomy - meiotic nondisjunction (disorder)",
            "attributes": null
          },
          {
            "code": "205638002",
            "description": "Monosomy 21, mosaicism (disorder)",
            "attributes": null
          },
          {
            "code": "205646001",
            "description": "Whole chromosome trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "205647005",
            "description": "Trisomy 6 (disorder)",
            "attributes": null
          },
          {
            "code": "205648000",
            "description": "Trisomy 7 (disorder)",
            "attributes": null
          },
          {
            "code": "205649008",
            "description": "Trisomy 8 (disorder)",
            "attributes": null
          },
          {
            "code": "205650008",
            "description": "Trisomy 9 (disorder)",
            "attributes": null
          },
          {
            "code": "205651007",
            "description": "Trisomy 10 (disorder)",
            "attributes": null
          },
          {
            "code": "205652000",
            "description": "Trisomy 11 (disorder)",
            "attributes": null
          },
          {
            "code": "205653005",
            "description": "Trisomy 12 (disorder)",
            "attributes": null
          },
          {
            "code": "205655003",
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            "attributes": null
          },
          {
            "code": "205657006",
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          },
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          },
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          },
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          },
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          },
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          },
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          },
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          },
          {
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          },
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          },
          {
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          },
          {
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          },
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          },
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          },
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          },
          {
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          },
          {
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          },
          {
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          },
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          },
          {
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            "description": "Complete trisomy 13 syndrome (disorder)",
            "attributes": null
          },
          {
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            "description": "Complete trisomy 14 syndrome (disorder)",
            "attributes": null
          },
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            "code": "21634003",
            "description": "Borjeson-Forssman-Lehmann syndrome (disorder)",
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          },
          {
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          },
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            "description": "Chimera (disorder)",
            "attributes": null
          },
          {
            "code": "22497004",
            "description": "9q partial trisomy syndrome (disorder)",
            "attributes": null
          },
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            "description": "21q partial distal trisomy syndrome (disorder)",
            "attributes": null
          },
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            "description": "21q partial trisomy syndrome (disorder)",
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          },
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          },
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          },
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          },
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          },
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            "attributes": null
          },
          {
            "code": "234138005",
            "description": "Bannayan syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "234143003",
            "description": "Parkes Weber syndrome (disorder)",
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          },
          {
            "code": "234146006",
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          },
          {
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            "description": "Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (disorder)",
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          },
          {
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            "description": "Chromosome 22 abnormalities with hypogammaglobulinemia (disorder)",
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          },
          {
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            "attributes": null
          },
          {
            "code": "234639001",
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          },
          {
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            "description": "Progressive hereditary glomerulonephritis without deafness (disorder)",
            "attributes": null
          },
          {
            "code": "23686004",
            "description": "Ring chromosome 20 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "237608006",
            "description": "Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus (disorder)",
            "attributes": null
          },
          {
            "code": "237610008",
            "description": "Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes (disorder)",
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          },
          {
            "code": "237614004",
            "description": "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder)",
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          {
            "code": "237918004",
            "description": "Klein-Waardenberg's syndrome (disorder)",
            "attributes": null
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          {
            "code": "238064009",
            "description": "Zellweger's-like syndrome (disorder)",
            "attributes": null
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          {
            "code": "23817003",
            "description": "Levy-Hollister syndrome (disorder)",
            "attributes": null
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          {
            "code": "238826008",
            "description": "de Barsy syndrome (disorder)",
            "attributes": null
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          {
            "code": "239010003",
            "description": "Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)",
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          {
            "code": "239025003",
            "description": "Dwarfism, alopecia, pseudoanodontia, cutis laxa (disorder)",
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          },
          {
            "code": "239030004",
            "description": "Orofacial-digital syndrome III (disorder)",
            "attributes": null
          },
          {
            "code": "239031000",
            "description": "Orofacial-digital syndrome IV (disorder)",
            "attributes": null
          },
          {
            "code": "239041002",
            "description": "Dento-oculocutaneous syndrome (disorder)",
            "attributes": null
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          {
            "code": "239056006",
            "description": "Flynn-Aird syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "239060009",
            "description": "Atypical ichthyosis vulgaris with hypogonadism (disorder)",
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          },
          {
            "code": "239826001",
            "description": "Chronic infantile neurological, cutaneous and articular syndrome (disorder)",
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          {
            "code": "24750000",
            "description": "Townes syndrome (disorder)",
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          },
          {
            "code": "24786004",
            "description": "7p partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "248206001",
            "description": "Marfanoid facies (finding)",
            "attributes": null
          },
          {
            "code": "254054000",
            "description": "Boomerang dysplasia (disorder)",
            "attributes": null
          },
          {
            "code": "254091006",
            "description": "Trichorhinophalangeal dysplasia type I (disorder)",
            "attributes": null
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            "code": "254101001",
            "description": "Osteodysplastic primordial dwarfism (disorder)",
            "attributes": null
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          {
            "code": "254102008",
            "description": "Osteodysplastic primordial dwarfism, type 1 (disorder)",
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            "code": "254132000",
            "description": "Endosteal hyperostoses with cerebellar hypoplasia (disorder)",
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            "code": "254137006",
            "description": "Oculodento-osseous dysplasia (disorder)",
            "attributes": null
          },
          {
            "code": "254138001",
            "description": "Oculodento-osseous dysplasia - severe type (disorder)",
            "attributes": null
          },
          {
            "code": "254139009",
            "description": "Oculodento-osseous dysplasia - mild type (disorder)",
            "attributes": null
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            "code": "254140006",
            "description": "Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)",
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            "code": "254149007",
            "description": "Carpal-tarsal osteolysis with nephropathy (disorder)",
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          },
          {
            "code": "254150007",
            "description": "Francois syndrome (disorder)",
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          {
            "code": "254259001",
            "description": "Absence of sex chromosome (disorder)",
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          {
            "code": "254261005",
            "description": "Pseudotrisomy 18 (disorder)",
            "attributes": null
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          {
            "code": "254262003",
            "description": "Unbalanced translocation and insertion (disorder)",
            "attributes": null
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          {
            "code": "254264002",
            "description": "Partial trisomy 21 in Down's syndrome (disorder)",
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          },
          {
            "code": "254266000",
            "description": "Partial trisomy 18 in Edward's syndrome (disorder)",
            "attributes": null
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            "code": "254268004",
            "description": "Partial trisomy 13 in Patau's syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "254269007",
            "description": "Whole chromosome trisomy meiotic nondisjunction (disorder)",
            "attributes": null
          },
          {
            "code": "254270008",
            "description": "Whole chromosome trisomy - mitotic nondisjunction mosaicism (disorder)",
            "attributes": null
          },
          {
            "code": "254272000",
            "description": "Triploidy and polyploidy (disorder)",
            "attributes": null
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            "code": "254273005",
            "description": "Autosomal deletion - mosaicism (disorder)",
            "attributes": null
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            "code": "254274004",
            "description": "Deletion of part of autosome (disorder)",
            "attributes": null
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          {
            "code": "254277006",
            "description": "Sex chromosome abnormality - female phenotype (disorder)",
            "attributes": null
          },
          {
            "code": "254280007",
            "description": "Turner's phenotype, partial X deletion karyotype (disorder)",
            "attributes": null
          },
          {
            "code": "254281006",
            "description": "Turner's phenotype - ring chromosome karyotype (disorder)",
            "attributes": null
          },
          {
            "code": "254282004",
            "description": "Female with more than three X chromosomes (disorder)",
            "attributes": null
          },
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            "code": "254283009",
            "description": "Mosaicism - lines with various numbers of X chromosomes (disorder)",
            "attributes": null
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            "code": "254287005",
            "description": "FRAXA (disorder)",
            "attributes": null
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          {
            "code": "254288000",
            "description": "FRAXE (disorder)",
            "attributes": null
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          {
            "code": "2593002",
            "description": "Dubowitz's syndrome (disorder)",
            "attributes": null
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          {
            "code": "2625009",
            "description": "Senter syndrome (disorder)",
            "attributes": null
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          {
            "code": "26445008",
            "description": "Cat eye syndrome (disorder)",
            "attributes": null
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          {
            "code": "26480007",
            "description": "11p partial trisomy syndrome (disorder)",
            "attributes": null
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          {
            "code": "268262006",
            "description": "Acrocephalosyndactyly (disorder)",
            "attributes": null
          },
          {
            "code": "268294001",
            "description": "Chromosome replaced with ring or dicentric (disorder)",
            "attributes": null
          },
          {
            "code": "270520003",
            "description": "Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder)",
            "attributes": null
          },
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            "code": "270521004",
            "description": "Trisomy and partial trisomy of autosome (disorder)",
            "attributes": null
          },
          {
            "code": "270889005",
            "description": "Deletion of long arm of chromosome 18 (disorder)",
            "attributes": null
          },
          {
            "code": "270890001",
            "description": "Deletion of short arm of chromosome 18 (disorder)",
            "attributes": null
          },
          {
            "code": "27183007",
            "description": "Anomaly of chromosome pair 14 (disorder)",
            "attributes": null
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          {
            "code": "274908005",
            "description": "Deletion with complex rearrangement (disorder)",
            "attributes": null
          },
          {
            "code": "27742002",
            "description": "Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder)",
            "attributes": null
          },
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            "code": "281587000",
            "description": "Pentalogy of Cantrell (disorder)",
            "attributes": null
          },
          {
            "code": "28557005",
            "description": "Geleophysic dysplasia (disorder)",
            "attributes": null
          },
          {
            "code": "2884008",
            "description": "Weill-Marchesani syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "2893009",
            "description": "Anomaly of chromosome pair 10 (disorder)",
            "attributes": null
          },
          {
            "code": "290006",
            "description": "Melnick-Fraser syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "29257000",
            "description": "13q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "29379007",
            "description": "8q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "30278004",
            "description": "Kundrat's syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "302960008",
            "description": "Mosaicism 45, X; 46, XX (disorder)",
            "attributes": null
          },
          {
            "code": "30361005",
            "description": "1q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "3073006",
            "description": "Ruvalcaba syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "309776008",
            "description": "Costello syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "31080005",
            "description": "Pericarditis secondary to Mulibrey nanism (disorder)",
            "attributes": null
          },
          {
            "code": "312214005",
            "description": "Floating-Harbor syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "31291009",
            "description": "Ectodermal dysplasia-ocular malformation syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "31325007",
            "description": "Ring chromosome 21 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "313426007",
            "description": "Kabuki make-up syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "31981007",
            "description": "12p partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "32107005",
            "description": "Anomaly of chromosome pair 17 (disorder)",
            "attributes": null
          },
          {
            "code": "32299009",
            "description": "Anomaly of chromosome pair 2 (disorder)",
            "attributes": null
          },
          {
            "code": "32985001",
            "description": "Greig cephalopolysyndactyly syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "33410002",
            "description": "Marshall syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "33706001",
            "description": "7q partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "34748004",
            "description": "Adams-Oliver syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "35031005",
            "description": "Hanhart's syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "35111009",
            "description": "Trisomy X syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "36114005",
            "description": "Sex phenotype-karyotype dissociation syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "36193003",
            "description": "Thalidomide embryopathy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "362984008",
            "description": "Anomaly of chromosome pair (disorder)",
            "attributes": null
          },
          {
            "code": "36369001",
            "description": "1p partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "36608002",
            "description": "16q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "371045000",
            "description": "Translocation Down syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "37367006",
            "description": "Anomaly of chromosome pair 7 (disorder)",
            "attributes": null
          },
          {
            "code": "37506004",
            "description": "4q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "37535007",
            "description": "Anomaly of chromosome pair 12 (disorder)",
            "attributes": null
          },
          {
            "code": "38215007",
            "description": "Oculodentodigital syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "38804009",
            "description": "Turner syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "389166003",
            "description": "Trichorhinophalangeal dysplasia type III (disorder)",
            "attributes": null
          },
          {
            "code": "389171005",
            "description": "Yunis-Varon dysplasia (disorder)",
            "attributes": null
          },
          {
            "code": "389277001",
            "description": "Scypho-patellar dysplasia (disorder)",
            "attributes": null
          },
          {
            "code": "39788007",
            "description": "Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "399340005",
            "description": "Hereditary nephritis (disorder)",
            "attributes": null
          },
          {
            "code": "399947002",
            "description": "Progeroid short stature with pigmented nevi (disorder)",
            "attributes": null
          },
          {
            "code": "400038003",
            "description": "Congenital malformation syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "401046009",
            "description": "Nicolaides-Baraitser syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "401138005",
            "description": "Pena-Shokeir syndrome type I (disorder)",
            "attributes": null
          },
          {
            "code": "401315004",
            "description": "Smith-Magenis syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "40291001",
            "description": "Mietens syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "40354009",
            "description": "De Lange syndrome (disorder)",
            "attributes": null
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            "code": "403554008",
            "description": "Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)",
            "attributes": null
          },
          {
            "code": "403756008",
            "description": "Aplasia cutis in Trisomy 13 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "403757004",
            "description": "Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)",
            "attributes": null
          },
          {
            "code": "403758009",
            "description": "Café-au-lait spots and ring chromosome 11 (disorder)",
            "attributes": null
          },
          {
            "code": "403759001",
            "description": "Autosomal chromosomal disorder (disorder)",
            "attributes": null
          },
          {
            "code": "403763008",
            "description": "Aplasia cutis in Johanson-Blizzard syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "403765001",
            "description": "Port-wine stain in Rubinstein-Taybi syndrome (disorder)",
            "attributes": null
          },
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            "code": "403766000",
            "description": "Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)",
            "attributes": null
          },
          {
            "code": "403767009",
            "description": "Acrocephalopolysyndactyly type II (disorder)",
            "attributes": null
          },
          {
            "code": "403768004",
            "description": "Acrocephalopolysyndactyly type III (disorder)",
            "attributes": null
          },
          {
            "code": "403769007",
            "description": "Cardio-acral-facial syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "403770008",
            "description": "Cardio-facio-cutaneous syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "403772000",
            "description": "Cleft palate lateral synechia syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "403773005",
            "description": "Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "403780007",
            "description": "Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "403781006",
            "description": "Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "403782004",
            "description": "Ichthyosis follicularis with alopecia and photophobia (disorder)",
            "attributes": null
          },
          {
            "code": "403796005",
            "description": "Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder)",
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          },
          {
            "code": "403807001",
            "description": "Phylloid hypomelanosis (disorder)",
            "attributes": null
          },
          {
            "code": "40389006",
            "description": "12q partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "409709004",
            "description": "Chromosomal disorder (disorder)",
            "attributes": null
          },
          {
            "code": "41040004",
            "description": "Complete trisomy 21 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "41069008",
            "description": "Langer-Giedion syndrome (disorder)",
            "attributes": null
          },
          {
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            "description": "Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)",
            "attributes": null
          },
          {
            "code": "41283003",
            "description": "Cerebro-oculo-facio-skeletal syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "4135001",
            "description": "11p partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "413936007",
            "description": "Currarino triad (disorder)",
            "attributes": null
          },
          {
            "code": "41443008",
            "description": "Multiple malformation syndrome with limb defect as major feature (disorder)",
            "attributes": null
          },
          {
            "code": "41483000",
            "description": "Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)",
            "attributes": null
          },
          {
            "code": "4199009",
            "description": "18p partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "422437002",
            "description": "X-linked intellectual disability with marfanoid habitus (disorder)",
            "attributes": null
          },
          {
            "code": "423095007",
            "description": "Congenital plagiocephaly with pelvic obliquity (disorder)",
            "attributes": null
          },
          {
            "code": "4242009",
            "description": "18q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "42432003",
            "description": "Oto-palato-digital syndrome, type II (disorder)",
            "attributes": null
          },
          {
            "code": "428113000",
            "description": "Autosomal aneuploidy (disorder)",
            "attributes": null
          },
          {
            "code": "428850001",
            "description": "Li-Fraumeni syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "429442006",
            "description": "Autosomal duplication (disorder)",
            "attributes": null
          },
          {
            "code": "429753001",
            "description": "Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder)",
            "attributes": null
          },
          {
            "code": "431395004",
            "description": "Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "43248007",
            "description": "Penta X syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "4325000",
            "description": "11q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "43420005",
            "description": "9q partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "439143004",
            "description": "Simpson-Golabi-Behmel syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "43929004",
            "description": "Smith-Lemli-Opitz syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "441944007",
            "description": "Oto-onycho-peroneal syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "44215001",
            "description": "Radiation chimera (disorder)",
            "attributes": null
          },
          {
            "code": "444655009",
            "description": "Extra unidentified structurally abnormal chromosome (disorder)",
            "attributes": null
          },
          {
            "code": "444858009",
            "description": "Unbalanced translocation of chromosome (disorder)",
            "attributes": null
          },
          {
            "code": "445257004",
            "description": "Nance-Horan syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "445431000",
            "description": "Frasier syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "445580008",
            "description": "Familial extra unidentified structurally abnormal chromosome (disorder)",
            "attributes": null
          },
          {
            "code": "446263001",
            "description": "Loeys-Dietz syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "44710007",
            "description": "Anomaly of chromosome pair 6 (disorder)",
            "attributes": null
          },
          {
            "code": "448045004",
            "description": "Fragile X associated tremor ataxia syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "449817000",
            "description": "Peters plus syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "449818005",
            "description": "22q11 partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "449819002",
            "description": "3p partial monosomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "449824004",
            "description": "Marden Walker syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "45525000",
            "description": "16q partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "45582004",
            "description": "Rubinstein-Taybi syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "4602007",
            "description": "Robin sequence (disorder)",
            "attributes": null
          },
          {
            "code": "47017007",
            "description": "Ring chromosome 1 syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "47535005",
            "description": "Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder)",
            "attributes": null
          },
          {
            "code": "48082007",
            "description": "Anomaly of chromosome pair 8 (disorder)",
            "attributes": null
          },
          {
            "code": "48637007",
            "description": "Multiple malformation syndrome with early overgrowth (disorder)",
            "attributes": null
          },
          {
            "code": "4874006",
            "description": "11q partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "48760005",
            "description": "10p partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "48812004",
            "description": "17q partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "49024004",
            "description": "4p partial trisomy syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "49096008",
            "description": "Duhamel's syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "49984004",
            "description": "FG syndrome (disorder)",
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            "code": "722493007",
            "description": "Familial caudal dysgenesis (disorder)",
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            "code": "722980006",
            "description": "Dementia due to chromosomal anomaly (disorder)",
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            "code": "723304001",
            "description": "Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)",
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            "code": "723309006",
            "description": "Endocrine-cerebro-osteodysplasia syndrome (disorder)",
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            "code": "723332005",
            "description": "Isodicentric chromosome 15 syndrome (disorder)",
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            "code": "723333000",
            "description": "Faciocardiorenal syndrome (disorder)",
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            "code": "723336008",
            "description": "Fallot complex with intellectual disability and growth delay syndrome (disorder)",
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            "code": "723366001",
            "description": "Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)",
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            "code": "723403008",
            "description": "Microbrachycephaly, ptosis, cleft lip syndrome (disorder)",
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            "code": "723409007",
            "description": "Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)",
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            "code": "723410002",
            "description": "N syndrome (disorder)",
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            "code": "723444009",
            "description": "Noonan syndrome-like disorder with loose anagen hair (disorder)",
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            "code": "723448007",
            "description": "Polyvalvular heart disease syndrome (disorder)",
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            "code": "723453002",
            "description": "Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)",
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            "code": "723461007",
            "description": "Pierre Robin sequence faciodigital anomaly syndrome (disorder)",
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            "code": "723501008",
            "description": "Renier Gabreels Jasper syndrome (disorder)",
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            "code": "723504000",
            "description": "Ramos Arroyo syndrome (disorder)",
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            "code": "723555007",
            "description": "Thymic, renal, anal, lung dysplasia syndrome (disorder)",
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            "code": "723578001",
            "description": "Terminal osseous dysplasia and pigmentary defect syndrome (disorder)",
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            "code": "723581006",
            "description": "Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)",
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            "code": "723610009",
            "description": "Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)",
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            "code": "723611008",
            "description": "Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder)",
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            "code": "723676007",
            "description": "Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)",
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            "code": "723720008",
            "description": "Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)",
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            "code": "723827003",
            "description": "Grant syndrome (disorder)",
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            "code": "723830005",
            "description": "Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)",
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            "code": "723973002",
            "description": "Sirenomelus (disorder)",
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            "code": "723991007",
            "description": "Angio-osteohypertrophic syndrome (disorder)",
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            "code": "723998001",
            "description": "Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)",
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            "code": "724000006",
            "description": "Retinohepatoendocrinologic syndrome (disorder)",
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            "code": "724001005",
            "description": "Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)",
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            "code": "724016008",
            "description": "Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)",
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            "code": "724064004",
            "description": "Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)",
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            "code": "724066002",
            "description": "Polysyndactyly and cardiac malformation syndrome (disorder)",
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            "code": "724069009",
            "description": "Patterson Stevenson Fontaine syndrome (disorder)",
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            "code": "724070005",
            "description": "Paternal 20q13.2q13.3 microdeletion syndrome (disorder)",
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            "description": "Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)",
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            "code": "724093004",
            "description": "Nephropathy, deafness, hyperparathyroidism syndrome (disorder)",
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            "code": "724098008",
            "description": "Monosomy 9q22.3 syndrome (disorder)",
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            "code": "724137002",
            "description": "Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)",
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            "description": "Microspherophakia with metaphyseal dysplasia syndrome (disorder)",
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            "code": "724141003",
            "description": "Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)",
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            "code": "724147004",
            "description": "8q13 microdeletion syndrome (disorder)",
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            "code": "724174003",
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            "code": "724207001",
            "description": "Kleefstra syndrome (disorder)",
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            "code": "724208006",
            "description": "Keutel syndrome (disorder)",
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            "description": "Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)",
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            "code": "724284005",
            "description": "Hypertelorism Teebi type (disorder)",
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            "code": "724643004",
            "description": "Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder)",
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            "description": "Myeloid leukemia co-occurrent with Down syndrome (disorder)",
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            "description": "Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)",
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            "description": "Familial scaphocephaly syndrome McGillivray type (disorder)",
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            "code": "725084009",
            "description": "Sex chromosome aneuploidy (disorder)",
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            "description": "Cryptomicrotia brachydactyly syndrome (disorder)",
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            "code": "725098001",
            "description": "Craniomicromelic syndrome (disorder)",
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            "description": "Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)",
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            "code": "725140007",
            "description": "Temple Baraitser syndrome (disorder)",
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            "description": "Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder)",
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            "description": "Autosomal recessive faciodigitogenital syndrome (disorder)",
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            "description": "Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)",
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            "code": "725906006",
            "description": "Intellectual disability Buenos Aires type (disorder)",
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            "code": "725908007",
            "description": "Neurofaciodigitorenal syndrome (disorder)",
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            "code": "725911008",
            "description": "Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)",
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            "code": "725912001",
            "description": "X-linked intellectual disability Brooks type (disorder)",
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            "description": "Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)",
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            "description": "X-linked diffuse leiomyomatosis with Alport syndrome (disorder)",
            "attributes": null
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            "description": "Partial trisomy of chromosome 1 (disorder)",
            "attributes": null
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            "code": "726339008",
            "description": "Partial trisomy of short arm of chromosome 1 (disorder)",
            "attributes": null
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          {
            "code": "726340005",
            "description": "Partial trisomy of chromosome 2 (disorder)",
            "attributes": null
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          {
            "code": "726341009",
            "description": "Partial trisomy of chromosome 3 (disorder)",
            "attributes": null
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          {
            "code": "726342002",
            "description": "Partial trisomy of chromosome 4 (disorder)",
            "attributes": null
          },
          {
            "code": "726343007",
            "description": "Partial trisomy of chromosome 5 (disorder)",
            "attributes": null
          },
          {
            "code": "726344001",
            "description": "Partial trisomy of long arm of chromosome 5 (disorder)",
            "attributes": null
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          {
            "code": "726345000",
            "description": "Partial trisomy of chromosome 6 (disorder)",
            "attributes": null
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          {
            "code": "726346004",
            "description": "Partial trisomy of chromosome 7 (disorder)",
            "attributes": null
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          {
            "code": "726347008",
            "description": "Partial trisomy of chromosome 8 (disorder)",
            "attributes": null
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          {
            "code": "726348003",
            "description": "Partial trisomy of chromosome 9 (disorder)",
            "attributes": null
          },
          {
            "code": "726349006",
            "description": "Partial trisomy of chromosome 10 (disorder)",
            "attributes": null
          },
          {
            "code": "726350006",
            "description": "Partial trisomy of chromosome 11 (disorder)",
            "attributes": null
          },
          {
            "code": "726351005",
            "description": "Partial trisomy of chromosome 12 (disorder)",
            "attributes": null
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          {
            "code": "726352003",
            "description": "Partial trisomy of chromosome 13 (disorder)",
            "attributes": null
          },
          {
            "code": "726353008",
            "description": "Partial trisomy of chromosome 14 (disorder)",
            "attributes": null
          },
          {
            "code": "726354002",
            "description": "Partial trisomy of chromosome 15 (disorder)",
            "attributes": null
          },
          {
            "code": "726355001",
            "description": "Partial trisomy of chromosome 16 (disorder)",
            "attributes": null
          },
          {
            "code": "726356000",
            "description": "Partial trisomy of chromosome 17 (disorder)",
            "attributes": null
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          {
            "code": "726357009",
            "description": "Partial trisomy of chromosome 18 (disorder)",
            "attributes": null
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          {
            "code": "726358004",
            "description": "Partial trisomy of chromosome 19 (disorder)",
            "attributes": null
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          {
            "code": "726359007",
            "description": "Partial trisomy of short arm of chromosome 19 (disorder)",
            "attributes": null
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          {
            "code": "726360002",
            "description": "Partial trisomy of chromosome 20 (disorder)",
            "attributes": null
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          {
            "code": "726361003",
            "description": "Partial trisomy of chromosome 21 (disorder)",
            "attributes": null
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          {
            "code": "726362005",
            "description": "Partial trisomy of chromosome 22 (disorder)",
            "attributes": null
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            "description": "Tetraploidy (disorder)",
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            "description": "Complete monosomy of autosome (disorder)",
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            "description": "Deletion of part of chromosome 1 (disorder)",
            "attributes": null
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          {
            "code": "726366008",
            "description": "Deletion of part of chromosome 2 (disorder)",
            "attributes": null
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          {
            "code": "726367004",
            "description": "Deletion of part of long arm of chromosome 2 (disorder)",
            "attributes": null
          },
          {
            "code": "726368009",
            "description": "Deletion of part of short arm of chromosome 2 (disorder)",
            "attributes": null
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          {
            "code": "726369001",
            "description": "Deletion of part of chromosome 3 (disorder)",
            "attributes": null
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          {
            "code": "726370000",
            "description": "Deletion of part of long arm of chromosome 3 (disorder)",
            "attributes": null
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            "description": "Deletion of part of chromosome 4 (disorder)",
            "attributes": null
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          {
            "code": "726372008",
            "description": "Deletion of part of chromosome 5 (disorder)",
            "attributes": null
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          {
            "code": "726373003",
            "description": "Deletion of part of long arm of chromosome 5 (disorder)",
            "attributes": null
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            "code": "726374009",
            "description": "Deletion of part of chromosome 6 (disorder)",
            "attributes": null
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          {
            "code": "726375005",
            "description": "Deletion of part of long arm of chromosome 6 (disorder)",
            "attributes": null
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          {
            "code": "726376006",
            "description": "Deletion of part of short arm of chromosome 6 (disorder)",
            "attributes": null
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          {
            "code": "726377002",
            "description": "Deletion of part of chromosome 7 (disorder)",
            "attributes": null
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            "code": "726378007",
            "description": "Deletion of part of chromosome 8 (disorder)",
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            "description": "Deletion of part of chromosome 9 (disorder)",
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            "description": "Deletion of part of chromosome 10 (disorder)",
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            "description": "Deletion of part of chromosome 11 (disorder)",
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            "description": "Deletion of part of chromosome 12 (disorder)",
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            "description": "Deletion of part of long arm of chromosome 12 (disorder)",
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            "description": "Deletion of part of chromosome 13 (disorder)",
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            "description": "Deletion of part of chromosome 14 (disorder)",
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            "description": "Deletion of part of chromosome 15 (disorder)",
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            "description": "Deletion of part of chromosome 16 (disorder)",
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            "description": "Deletion of part of short arm of chromosome 16 (disorder)",
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            "description": "Deletion of part of chromosome 17 (disorder)",
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            "description": "Deletion of part of short arm of chromosome 17 (disorder)",
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            "description": "Deletion of part of chromosome 18 (disorder)",
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            "description": "Deletion of part of chromosome 19 (disorder)",
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            "description": "Deletion of long arm of chromosome 19 (disorder)",
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            "description": "Deletion of short arm of chromosome 19 (disorder)",
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            "description": "Deletion of part of chromosome 20 (disorder)",
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            "description": "Deletion of part of long arm of chromosome 20 (disorder)",
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            "description": "Deletion of part of short arm of chromosome 20 (disorder)",
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            "description": "Deletion of part of chromosome 21 (disorder)",
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            "description": "Deletion of part of chromosome 22 (disorder)",
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            "description": "Uniparental disomy (disorder)",
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            "description": "Uniparental disomy of paternal origin (disorder)",
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            "description": "Scalp defect postaxial polydactyly syndrome (disorder)",
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            "description": "3q13 microdeletion syndrome (disorder)",
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            "description": "4p16.3 microduplication syndrome (disorder)",
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            "description": "7q11.23 microduplication syndrome (disorder)",
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            "description": "Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)",
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            "description": "Ring chromosome 13 syndrome (disorder)",
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            "description": "Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)",
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            "description": "X-linked intellectual disability Nascimento type (disorder)",
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            "description": "Chromosome Xp22.3 microdeletion syndrome (disorder)",
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            "description": "Short stature locking fingers syndrome (disorder)",
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            "description": "Moore-Federman syndrome (disorder)",
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            "description": "Polyploidy syndrome (disorder)",
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            "description": "10q partial trisomy syndrome (disorder)",
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            "code": "732247000",
            "description": "Cleft lip retinopathy syndrome (disorder)",
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            "description": "Coxoauricular syndrome (disorder)",
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            "description": "Craniosynostosis fibular aplasia syndrome (disorder)",
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            "description": "Distal monosomy 17q (disorder)",
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            "description": "Cyprus facial neuromusculoskeletal syndrome (disorder)",
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            "description": "Marfanoid syndrome De Silva type (disorder)",
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            "description": "Marshall-Smith syndrome (disorder)",
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            "description": "Hydrocephalus, tall stature, joint laxity syndrome (disorder)",
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            "description": "Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)",
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            "description": "Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)",
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            "description": "Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)",
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            "description": "Charlie M syndrome (disorder)",
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            "description": "German syndrome (disorder)",
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            "description": "Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)",
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            "description": "Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)",
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            "description": "Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)",
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            "description": "Trigonocephaly, short stature, developmental delay syndrome (disorder)",
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            "description": "Deafness, vitiligo, achalasia syndrome (disorder)",
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            "description": "Pseudoprogeria syndrome (disorder)",
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            "code": "733087007",
            "description": "Polydactyly myopia syndrome (disorder)",
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            "description": "Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)",
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            "description": "Isolated hereditary congenital facial paralysis (disorder)",
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            "code": "733094005",
            "description": "Dandy-Walker malformation with postaxial polydactyly syndrome (disorder)",
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          },
          {
            "code": "733095006",
            "description": "Skeletal dysplasia brachydactyly syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "733096007",
            "description": "Thyrocerebrorenal syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "733110004",
            "description": "Van den Bosch syndrome (disorder)",
            "attributes": null
          },
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            "code": "733116005",
            "description": "Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)",
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            "code": "733117001",
            "description": "Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)",
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            "code": "733118006",
            "description": "Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)",
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            "code": "733194007",
            "description": "Dementia co-occurrent and due to Down syndrome (disorder)",
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            "code": "733300002",
            "description": "Deletion of part of long arm of chromosome 17 (disorder)",
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            "code": "733416004",
            "description": "Exostosis, anetoderma, brachydactyly type E syndrome (disorder)",
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            "code": "733417008",
            "description": "Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)",
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            "code": "733425005",
            "description": "Acrocephalopolysyndactyly type IV (disorder)",
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            "code": "733454004",
            "description": "Long thumb brachydactyly syndrome (disorder)",
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            "code": "733472005",
            "description": "Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)",
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            "code": "733473000",
            "description": "16p13.3 microduplication syndrome (disorder)",
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            "code": "733518000",
            "description": "16p11.2p12.2 microduplication syndrome (disorder)",
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            "code": "733519008",
            "description": "17q12 microdeletion syndrome (disorder)",
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            "code": "733520002",
            "description": "20q13.33 microdeletion syndrome (disorder)",
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            "code": "733521003",
            "description": "Distal 16p11.2 microdeletion syndrome (disorder)",
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            "code": "733522005",
            "description": "Megalocornea with intellectual disability syndrome (disorder)",
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            "code": "733604003",
            "description": "Microcephalus, lymphedema, chorioretinopathy syndrome (disorder)",
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            "code": "733605002",
            "description": "XY type gonadal dysgenesis with associated anomalies syndrome (disorder)",
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            "code": "733606001",
            "description": "Summitt syndrome (disorder)",
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            "code": "733623005",
            "description": "Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)",
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            "code": "733626002",
            "description": "Atypical Norrie disease due to monosomy Xp11.3 (disorder)",
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            "code": "734016004",
            "description": "17p11.2 microduplication syndrome (disorder)",
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            "code": "734017008",
            "description": "Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)",
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            "code": "734029004",
            "description": "Distal 22q11.2 microdeletion syndrome (disorder)",
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            "code": "734030009",
            "description": "12q15q21.1 microdeletion syndrome (disorder)",
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            "code": "737037004",
            "description": "Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder)",
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            "code": "74008005",
            "description": "5p partial trisomy syndrome (disorder)",
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            "code": "74183001",
            "description": "Partial tetrasomy 9 syndrome (disorder)",
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            "code": "742876007",
            "description": "Peroxisome biogenesis disorder (disorder)",
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            "code": "74345006",
            "description": "Congenital disorder due to abnormality of chromosome number OR structure (disorder)",
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            "code": "74350000",
            "description": "Complete trisomy 9 syndrome (disorder)",
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            "code": "74769007",
            "description": "Anomaly of chromosome pair 1 (disorder)",
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            "code": "7586009",
            "description": "14q partial trisomy syndrome (disorder)",
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            "code": "75893003",
            "description": "19q partial trisomy syndrome (disorder)",
            "attributes": null
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            "code": "75968004",
            "description": "Sotos' syndrome (disorder)",
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            "code": "75979009",
            "description": "Johanson-Blizzard syndrome (disorder)",
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            "code": "763061004",
            "description": "20q11.2 microduplication syndrome (disorder)",
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            "code": "763062006",
            "description": "2q33.1 microdeletion syndrome (disorder)",
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            "code": "763066009",
            "description": "Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)",
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            "code": "763130006",
            "description": "Cleft palate, large ears, small head syndrome (disorder)",
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            "code": "763186006",
            "description": "Grubben, De Cock, Borghgraef syndrome (disorder)",
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            "code": "763213001",
            "description": "Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)",
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            "code": "763272003",
            "description": "Distal trisomy 2q (disorder)",
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            "code": "763273008",
            "description": "Distal trisomy 4q (disorder)",
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            "code": "763274002",
            "description": "Distal trisomy 5q (disorder)",
            "attributes": null
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            "code": "763275001",
            "description": "Distal trisomy 6q (disorder)",
            "attributes": null
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            "code": "763276000",
            "description": "Distal trisomy 7p (disorder)",
            "attributes": null
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            "code": "763277009",
            "description": "Distal trisomy 8q (disorder)",
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            "code": "763278004",
            "description": "Facial dysmorphism, cleft palate, loose skin syndrome (disorder)",
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            "code": "763279007",
            "description": "Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder)",
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            "code": "763318007",
            "description": "Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder)",
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            "code": "763320005",
            "description": "Craniofaciofrontodigital syndrome (disorder)",
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            "code": "763353000",
            "description": "Cerebrofacioarticular syndrome (disorder)",
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            "code": "763404001",
            "description": "Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder)",
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            "code": "763405000",
            "description": "Ring chromosome 15 syndrome (disorder)",
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            "code": "763406004",
            "description": "Ring chromosome 16 syndrome (disorder)",
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            "code": "763527007",
            "description": "Distal monosomy 13q syndrome (disorder)",
            "attributes": null
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            "code": "763528002",
            "description": "Distal monosomy 3p syndrome (disorder)",
            "attributes": null
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            "code": "763529005",
            "description": "Distal monosomy 7q36 syndrome (disorder)",
            "attributes": null
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            "code": "763530000",
            "description": "Distal monosomy 9p syndrome (disorder)",
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            "code": "763615003",
            "description": "Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)",
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            "code": "763616002",
            "description": "Velofacioskeletal syndrome (disorder)",
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            "code": "763618001",
            "description": "Wiedemann Steiner syndrome (disorder)",
            "attributes": null
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            "code": "763619009",
            "description": "White forelock with malformations syndrome (disorder)",
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            "code": "763620003",
            "description": "Trichodermodysplasia and dental alterations syndrome (disorder)",
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            "code": "763630007",
            "description": "Satoyoshi syndrome (disorder)",
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            "code": "763631006",
            "description": "Short stature, wormian bones, dextrocardia syndrome (disorder)",
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            "code": "763665007",
            "description": "Craniodigital syndrome and intellectual disability syndrome (disorder)",
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            "code": "763722004",
            "description": "Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)",
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            "code": "763741001",
            "description": "Intellectual disability, alacrima, achalasia syndrome (disorder)",
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            "code": "763742008",
            "description": "Intellectual disability, polydactyly, uncombable hair syndrome (disorder)",
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            "code": "763743003",
            "description": "Intellectual disability, spasticity, ectrodactyly syndrome (disorder)",
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            "code": "763744009",
            "description": "Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)",
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            "code": "763745005",
            "description": "Intellectual disability Wolff type (disorder)",
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            "code": "763755009",
            "description": "Dislocation of hip and facial dysmorphism syndrome (disorder)",
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            "code": "763774001",
            "description": "Keipert syndrome (disorder)",
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            "code": "763795006",
            "description": "Malan overgrowth syndrome (disorder)",
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            "code": "763797003",
            "description": "Agenesis of corpus callosum and abnormal genitalia syndrome (disorder)",
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            "code": "763815000",
            "description": "Oculoauricular syndrome Schorderet type (disorder)",
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            "code": "763821001",
            "description": "Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)",
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            "code": "763833006",
            "description": "Oro-facial digital syndrome type 1 (disorder)",
            "attributes": null
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            "code": "763834000",
            "description": "Oro-facial digital syndrome type 12 (disorder)",
            "attributes": null
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            "code": "763835004",
            "description": "Oro-facial digital syndrome type 13 (disorder)",
            "attributes": null
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            "code": "763837007",
            "description": "Oro-facial digital syndrome type 14 (disorder)",
            "attributes": null
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            "code": "763839005",
            "description": "Neonatal Marfan syndrome (disorder)",
            "attributes": null
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            "code": "763860004",
            "description": "Otofaciocervical syndrome (disorder)",
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            "code": "763863002",
            "description": "Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)",
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            "code": "763866005",
            "description": "Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome (disorder)",
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            "code": "763868006",
            "description": "Short stature homeobox related short stature (disorder)",
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            "code": "764435003",
            "description": "17q12 microduplication syndrome (disorder)",
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            "description": "19p13.13 microdeletion syndrome (disorder)",
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            "code": "764447009",
            "description": "Distal trisomy 11q (disorder)",
            "attributes": null
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            "code": "764454003",
            "description": "Distal trisomy 13q (disorder)",
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            "code": "764455002",
            "description": "Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)",
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            "code": "764459008",
            "description": "Distal trisomy 16q (disorder)",
            "attributes": null
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            "code": "764461004",
            "description": "Mosaic trisomy 10 syndrome (disorder)",
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            "code": "764463001",
            "description": "Mosaic trisomy 12 syndrome (disorder)",
            "attributes": null
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            "code": "764466009",
            "description": "Mosaic trisomy 14 syndrome (disorder)",
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            "code": "76447002",
            "description": "6q partial trisomy syndrome (disorder)",
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            "code": "764500002",
            "description": "Distal trisomy 20q (disorder)",
            "attributes": null
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            "code": "764512003",
            "description": "Distal trisomy 22q (disorder)",
            "attributes": null
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            "code": "764518004",
            "description": "Distal trisomy 2p (disorder)",
            "attributes": null
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            "code": "764519007",
            "description": "Distal trisomy 3p (disorder)",
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            "code": "764520001",
            "description": "Distal trisomy 9q (disorder)",
            "attributes": null
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            "code": "764524005",
            "description": "Distal 22q11.2 microduplication syndrome (disorder)",
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            "code": "764619001",
            "description": "Mosaic trisomy 15 syndrome (disorder)",
            "attributes": null
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            "code": "764621006",
            "description": "Mosaic trisomy 16 syndrome (disorder)",
            "attributes": null
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            "code": "764622004",
            "description": "Mosaic trisomy 17 syndrome (disorder)",
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            "code": "764623009",
            "description": "Mosaic trisomy 2 syndrome (disorder)",
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            "description": "Mosaic trisomy 20 syndrome (disorder)",
            "attributes": null
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            "code": "764625002",
            "description": "Mosaic trisomy 22 syndrome (disorder)",
            "attributes": null
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            "code": "764627005",
            "description": "Mosaic trisomy 3 syndrome (disorder)",
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            "code": "764628000",
            "description": "Mosaic trisomy 4 syndrome (disorder)",
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            "code": "764629008",
            "description": "Mosaic trisomy 5 syndrome (disorder)",
            "attributes": null
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            "code": "764630003",
            "description": "Mosaic trisomy 7 syndrome (disorder)",
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            "description": "Tetrasomy 21 (disorder)",
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            "code": "764696007",
            "description": "Distal 17p13.3 microdeletion syndrome (disorder)",
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            "code": "764697003",
            "description": "Verloove Vanhorick Brubakk syndrome (disorder)",
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            "code": "764703002",
            "description": "7p22.1 microduplication syndrome (disorder)",
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            "code": "764711007",
            "description": "Xq12-q13.3 duplication syndrome (disorder)",
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            "description": "9p13 microdeletion syndrome (disorder)",
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            "description": "Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)",
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            "description": "Proximal chromosome 18q deletion syndrome (disorder)",
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            "description": "Branchiootic syndrome (disorder)",
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            "description": "Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder)",
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            "description": "Intellectual disability Birk-Barel type (disorder)",
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            "description": "Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)",
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            "description": "Constitutional mismatch repair deficiency syndrome (disorder)",
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            "description": "Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder)",
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            "description": "Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder)",
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            "code": "764989007",
            "description": "Mosaic trisomy 9 syndrome (disorder)",
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            "code": "764996009",
            "description": "Non-distal trisomy 13q (disorder)",
            "attributes": null
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            "code": "764997000",
            "description": "Non-distal trisomy 9q (disorder)",
            "attributes": null
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            "code": "765140006",
            "description": "8p23.1 duplication syndrome (disorder)",
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            "description": "Proximal 16p11.2 microduplication syndrome (disorder)",
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            "description": "Distal chromosome 18q deletion syndrome (disorder)",
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            "code": "76520005",
            "description": "Robinow syndrome (disorder)",
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            "description": "Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability (disorder)",
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            "code": "765471005",
            "description": "X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)",
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            "code": "765484001",
            "description": "Ring chromosome 19 syndrome (disorder)",
            "attributes": null
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            "code": "765485000",
            "description": "Ring chromosome 2 syndrome (disorder)",
            "attributes": null
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          {
            "code": "765486004",
            "description": "Ring chromosome 3 syndrome (disorder)",
            "attributes": null
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          {
            "code": "765487008",
            "description": "Ring chromosome 5 syndrome (disorder)",
            "attributes": null
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          {
            "code": "765488003",
            "description": "Ring chromosome 6 syndrome (disorder)",
            "attributes": null
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            "code": "765489006",
            "description": "Ring chromosome 7 syndrome (disorder)",
            "attributes": null
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            "code": "765750001",
            "description": "Angio-osteohypotrophic syndrome (disorder)",
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            "code": "765755006",
            "description": "Axial mesodermal dysplasia spectrum (disorder)",
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            "description": "Microcephalic primordial dwarfism Montreal type (disorder)",
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            "description": "Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)",
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            "code": "766032007",
            "description": "Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)",
            "attributes": null
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            "code": "766050000",
            "description": "Distal monosomy 15q syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "766051001",
            "description": "Distal trisomy 17q syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "766052008",
            "description": "Distal trisomy 19q syndrome (disorder)",
            "attributes": null
          },
          {
            "code": "766053003",
            "description": "Distal trisomy 1p36 syndrome (disorder)",
            "attributes": null
          },
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            "code": "766237006",
            "description": "Maternal uniparental disomy of chromosome 2 (disorder)",
            "attributes": null
          },
          {
            "code": "766238001",
            "description": "Maternal uniparental disomy of chromosome 4 (disorder)",
            "attributes": null
          },
          {
            "code": "766239009",
            "description": "Maternal uniparental disomy of chromosome 6 (disorder)",
            "attributes": null
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            "description": "Maternal uniparental disomy of chromosome 9 (disorder)",
            "attributes": null
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            "code": "766249007",
            "description": "Deafness, nephritis, anorectal malformation syndrome (disorder)",
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            "code": "766716004",
            "description": "Monosomy 13q34 (disorder)",
            "attributes": null
          },
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            "code": "766719006",
            "description": "Paternal uniparental disomy of chromosome 1 (disorder)",
            "attributes": null
          },
          {
            "code": "766720000",
            "description": "Paternal uniparental disomy of chromosome 21 (disorder)",
            "attributes": null
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            "code": "766721001",
            "description": "Paternal uniparental disomy of chromosome 7 (disorder)",
            "attributes": null
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            "code": "766753005",
            "description": "Nijmegen breakage syndrome-like disorder (disorder)",
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            "code": "766755003",
            "description": "Tetrasomy 5p (disorder)",
            "attributes": null
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            "code": "766760004",
            "description": "Small ring X chromosome (disorder)",
            "attributes": null
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          {
            "code": "766765009",
            "description": "Radio-renal syndrome (disorder)",
            "attributes": null
          },
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            "code": "766766005",
            "description": "1p31p32 microdeletion syndrome (disorder)",
            "attributes": null
          },
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            "code": "766816008",
            "description": "2q23.1 microduplication syndrome (disorder)",
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          },
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            "code": "766824003",
            "description": "Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder)",
            "attributes": null
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            "code": "766870005",
            "description": "Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)",
            "attributes": null
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            "code": "766983005",
            "description": "Susceptibility to respiratory infection associated with CD8alpha chain mutation (disorder)",
            "attributes": null
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            "code": "766987006",
            "description": "Moebius syndrome (disorder)",
            "attributes": null
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            "code": "768471006",
            "description": "16p12.2 microdeletion syndrome (disorder)",
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            "code": "768555009",
            "description": "5q31.3 microdeletion syndrome (disorder)",
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            "code": "768713003",
            "description": "15q13.3 microduplication syndrome (disorder)",
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            "code": "76880004",
            "description": "Angelman syndrome (disorder)",
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            "code": "768843007",
            "description": "Tall stature, intellectual disability, facial dysmorphism syndrome (disorder)",
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            "code": "768927001",
            "description": "Trisomy 1q syndrome (disorder)",
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            "code": "768929003",
            "description": "Trisomy 8p syndrome (disorder)",
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            "code": "768930008",
            "description": "Partial trisomy of short arm of chromosome 8 (disorder)",
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            "description": "Partial trisomy of long arm of chromosome 1 (disorder)",
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            "code": "770401007",
            "description": "10q22.3q23.3 microdeletion syndrome (disorder)",
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            "code": "770404004",
            "description": "Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)",
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            "code": "770410004",
            "description": "Distal monosomy 14q (disorder)",
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            "code": "770411000",
            "description": "Distal monosomy 19p13.3 (disorder)",
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            "code": "770414008",
            "description": "Alport syndrome (disorder)",
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            "code": "770562000",
            "description": "Maternal uniparental disomy of chromosome 1 (disorder)",
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            "code": "770563005",
            "description": "Maternal uniparental disomy of chromosome 13 (disorder)",
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            "code": "770564004",
            "description": "Microcephalic primordial dwarfism Alazami type (disorder)",
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            "code": "770565003",
            "description": "Microcephalic primordial dwarfism Dauber type (disorder)",
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            "code": "770566002",
            "description": "Monosomy 13q14 syndrome (disorder)",
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            "code": "770595006",
            "description": "Ring chromosome 12 syndrome (disorder)",
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            "code": "770604006",
            "description": "X-linked cerebral, cerebellar, coloboma syndrome (disorder)",
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            "code": "770625006",
            "description": "Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)",
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            "code": "770629000",
            "description": "Distal 17p13.1 microdeletion syndrome (disorder)",
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            "code": "770663003",
            "description": "Tetrasomy 11q24.1 (disorder)",
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            "code": "770665005",
            "description": "Non-distal monosomy 10q (disorder)",
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            "code": "770666006",
            "description": "Non-distal trisomy 10q (disorder)",
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            "code": "770668007",
            "description": "Paternal uniparental disomy of chromosome 13 (disorder)",
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            "code": "770669004",
            "description": "Paternal uniparental disomy of chromosome 5 (disorder)",
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            "code": "770670003",
            "description": "Paternal uniparental disomy of chromosome 6 (disorder)",
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            "code": "770679002",
            "description": "Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder)",
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            "code": "770680004",
            "description": "Prader-Willi-like syndrome (disorder)",
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            "code": "770681000",
            "description": "Robin sequence and oligodactyly syndrome (disorder)",
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            "code": "770719004",
            "description": "3q27.3 microdeletion syndrome (disorder)",
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            "description": "Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)",
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            "description": "Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)",
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            "description": "Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)",
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            "code": "770751003",
            "description": "Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)",
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            "code": "770754006",
            "description": "2p21 microdeletion syndrome without cystinuria (disorder)",
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            "code": "770755007",
            "description": "Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)",
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            "code": "770756008",
            "description": "2p13.2 microdeletion syndrome (disorder)",
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            "code": "770760006",
            "description": "16q24.1 microdeletion syndrome (disorder)",
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            "code": "770788000",
            "description": "Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder)",
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            "code": "770793002",
            "description": "5p13 microduplication syndrome (disorder)",
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            "code": "770794008",
            "description": "11p15.4 microduplication syndrome (disorder)",
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            "code": "770900000",
            "description": "Familial omphalocele syndrome with facial dysmorphism (disorder)",
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            "description": "Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)",
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            "code": "770902008",
            "description": "Distal monosomy 12p (disorder)",
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            "code": "770905005",
            "description": "Distal 7q11.23 microdeletion syndrome (disorder)",
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            "code": "770907002",
            "description": "Kagami Ogata syndrome (disorder)",
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            "code": "770941005",
            "description": "Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)",
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            "description": "Oculootodental syndrome (disorder)",
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            "code": "770948004",
            "description": "Rhizomelic syndrome Urbach type (disorder)",
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            "code": "771013004",
            "description": "Pilotto syndrome (disorder)",
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            "code": "771072001",
            "description": "Monosomy 9p (disorder)",
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            "code": "771074000",
            "description": "Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)",
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            "description": "Intellectual disability, short stature, hypertelorism syndrome (disorder)",
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            "description": "X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)",
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            "description": "Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)",
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            "code": "771178004",
            "description": "Edinburgh malformation syndrome (disorder)",
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            "code": "771179007",
            "description": "Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)",
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            "code": "771182002",
            "description": "Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)",
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            "code": "771186004",
            "description": "Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)",
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            "description": "Digital extensor muscle aplasia with polyneuropathy (disorder)",
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            "code": "771264005",
            "description": "Absent radius, anogenital anomalies syndrome (disorder)",
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            "code": "771265006",
            "description": "Teebi Shaltout syndrome (disorder)",
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            "description": "Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)",
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            "code": "771337007",
            "description": "1q21.1 microduplication syndrome (disorder)",
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            "description": "15q11.2 microdeletion syndrome (disorder)",
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            "code": "771341006",
            "description": "14q11.2 microduplication syndrome (disorder)",
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            "code": "771439009",
            "description": "14q22q23 microdeletion syndrome (disorder)",
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            "code": "771440006",
            "description": "Hemihyperplasia with multiple lipomatosis syndrome (disorder)",
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            "code": "771442003",
            "description": "Ogden syndrome (disorder)",
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            "code": "771470001",
            "description": "Jawad syndrome (disorder)",
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            "description": "Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)",
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            "description": "15q overgrowth syndrome (disorder)",
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            "description": "Thrombocythemia with distal limb defect (disorder)",
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            "description": "Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)",
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            "code": "772224009",
            "description": "Warburg micro syndrome (disorder)",
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            "description": "RAB18, member RAS oncogene family deficiency (disorder)",
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            "code": "77269002",
            "description": "Complete trisomy 16 syndrome (disorder)",
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            "description": "Acephalorhachia (disorder)",
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            "description": "X-linked intellectual disability, craniofacioskeletal syndrome (disorder)",
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            "description": "Familial osteodysplasia Anderson type (disorder)",
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            "description": "Postaxial polydactyly, dental, vertebral anomalies syndrome (disorder)",
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            "description": "Hydrocephalus, blue sclera, nephropathy syndrome (disorder)",
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            "code": "773281008",
            "description": "Thakker Donnai syndrome (disorder)",
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            "description": "Macrosomia, microphthalmia, cleft palate syndrome (disorder)",
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            "description": "Maternal uniparental disomy of chromosome 16 (disorder)",
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            "description": "Zechi Ceide syndrome (disorder)",
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            "code": "773325004",
            "description": "Distal 7q11.23 microduplication syndrome (disorder)",
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            "code": "773326003",
            "description": "7q31 microdeletion syndrome (disorder)",
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            "code": "773329005",
            "description": "CK syndrome (disorder)",
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            "description": "Craniosynostosis and dental anomalies syndrome (disorder)",
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            "description": "20p13 microdeletion syndrome (disorder)",
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            "description": "Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder)",
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            "description": "Contiguous ABCD1 DXS1357E deletion syndrome (disorder)",
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            "description": "Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)",
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            "description": "Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)",
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            "description": "9q31.1q31.3 microdeletion syndrome (disorder)",
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            "description": "14q24.1q24.3 microdeletion syndrome (disorder)",
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            "description": "13q12.3 microdeletion syndrome (disorder)",
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            "description": "THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)",
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            "description": "Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)",
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            "description": "Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)",
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            "description": "Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)",
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            "description": "Distal Xq28 microduplication syndrome (disorder)",
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            "description": "AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder)",
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            "description": "Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)",
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            "description": "Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)",
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            "description": "Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)",
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            "description": "3p partial trisomy syndrome (disorder)",
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            "description": "9p partial trisomy syndrome (disorder)",
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            "description": "Baller-Gerold syndrome (disorder)",
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            "description": "Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)",
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            "description": "Temtamy preaxial brachydactyly syndrome (disorder)",
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            "description": "3q26q27 microdeletion syndrome (disorder)",
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            "description": "12p12.1 microdeletion syndrome (disorder)",
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            "description": "Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)",
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            "description": "Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)",
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            "description": "Lethal polymalformative syndrome Boissel type (disorder)",
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            "description": "Ring chromosome 17 syndrome (disorder)",
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            "description": "Complete trisomy 10 syndrome (disorder)",
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            "description": "3q26 microduplication syndrome (disorder)",
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            "description": "10q22.3q23.3 microduplication syndrome (disorder)",
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            "description": "Distal monosomy 4q (disorder)",
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            "code": "782674007",
            "description": "Distal monosomy 7p (disorder)",
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            "description": "Distal trisomy 18q (disorder)",
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            "description": "Maternal uniparental disomy of chromosome 21 (disorder)",
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            "description": "Maternal uniparental disomy of chromosome 22 (disorder)",
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            "description": "Non-distal monosomy 12q (disorder)",
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            "description": "Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder)",
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            "description": "Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)",
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            "description": "Male emopamil-binding protein disorder with neurological defect (disorder)",
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            "description": "Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)",
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    "status": 1,
    "doi": "https://doi.org/10.48533/34bb-1021",
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]