[
  {
    "phenotype_id": "PH2726",
    "phenotype_version_id": 6830,
    "name": "Disorders with possible learning disability codes",
    "definition": "This codelist was taken from [OpenCodelists](https://www.opencodelists.org/), created by [OpenSAFELY](https://www.opensafely.org/). We recommend viewing this Phenotype on the OpenCodelist website to view the most recent version.\n\n\nTaken from the `LDMAY_COD` refset published by NHSD. Contains public sector information licensed under the UK Open Government Licence v3\\.0 (https://www.nationalarchives.gov.uk/doc/open\\-government\\-licence/version/3/).\n\n\n© University of Oxford for the Bennett Institute for Applied Data Science 2025\\. This work may be copied freely for non\\-commercial research and study.\n\n",
    "implementation": null,
    "publications": null,
    "validation": null,
    "citation_requirements": null,
    "created": "2026-01-26T22:39:49.454646Z",
    "author": "NHSD Primary Care Domain Refsets",
    "collections": [
      {
        "name": "OpenCodelist",
        "value": 31
      },
      {
        "name": "Phenotype Library",
        "value": 18
      }
    ],
    "tags": null,
    "organisation": {
      "id": 1,
      "slug": "opensafely",
      "name": "OpenSAFELY"
    },
    "world_access": 1,
    "updated": "2026-01-26T22:39:54.576428Z",
    "references": [],
    "signed_off": [],
    "methodology": "",
    "coding_system": [
      {
        "name": "SNOMED  CT codes",
        "value": 9
      }
    ],
    "open_codelist_id": "nhsd-primary-care-domain-refsets/ldmay_cod",
    "source_reference": "https://www.opencodelists.org/codelist/nhsd-primary-care-domain-refsets/ldmay_cod/20250912",
    "concept_information": [
      {
        "concept_id": 7007,
        "concept_version_id": 14492,
        "concept_name": "nhsd-primary-care-domain-refsets/ldmay_cod/20250912",
        "coding_system": {
          "id": 9,
          "name": "SNOMED  CT codes",
          "description": "SNOMED CT codes"
        },
        "phenotype_id": "PH2726",
        "phenotype_version_id": 6830,
        "phenotype_name": "Disorders with possible learning disability codes",
        "code_attribute_header": [],
        "codes": [
          {
            "code": "1003322006",
            "description": "Distal deletion of short arm of chromosome 3",
            "attributes": null
          },
          {
            "code": "1003358004",
            "description": "Distal deletion of short arm of chromosome 8",
            "attributes": null
          },
          {
            "code": "1003364006",
            "description": "Distal deletion of chromosome 13",
            "attributes": null
          },
          {
            "code": "1003376006",
            "description": "Medial duplication of long arm of chromosome 9",
            "attributes": null
          },
          {
            "code": "1003377002",
            "description": "Medial duplication of short arm of chromosome 1",
            "attributes": null
          },
          {
            "code": "1003380001",
            "description": "6q16 microdeletion syndrome",
            "attributes": null
          },
          {
            "code": "1003381002",
            "description": "Onycho-tricho-dysplasia neutropenia syndrome",
            "attributes": null
          },
          {
            "code": "1003391008",
            "description": "Medial deletion of long arm of chromosome 4",
            "attributes": null
          },
          {
            "code": "1003392001",
            "description": "Medial deletion of long arm of chromosome 5",
            "attributes": null
          },
          {
            "code": "1003393006",
            "description": "Medial deletion of chromosome 14",
            "attributes": null
          },
          {
            "code": "1003394000",
            "description": "Medial deletion of long arm of chromosome 2",
            "attributes": null
          },
          {
            "code": "1003395004",
            "description": "Maternal uniparental disomy of chromosome 7",
            "attributes": null
          },
          {
            "code": "1003396003",
            "description": "Medial deletion of chromosome 13",
            "attributes": null
          },
          {
            "code": "1003402006",
            "description": "Maternal uniparental disomy of chromosome 15",
            "attributes": null
          },
          {
            "code": "1003403001",
            "description": "Maternal uniparental disomy of chromosome 11",
            "attributes": null
          },
          {
            "code": "1003405008",
            "description": "Maternal uniparental disomy of chromosome 14",
            "attributes": null
          },
          {
            "code": "1003410007",
            "description": "Medial duplication of long arm of chromosome 5",
            "attributes": null
          },
          {
            "code": "1003411006",
            "description": "Medial duplication of long arm of chromosome 7",
            "attributes": null
          },
          {
            "code": "1003412004",
            "description": "Medial duplication of long arm of chromosome 2",
            "attributes": null
          },
          {
            "code": "1003413009",
            "description": "Medial duplication of long arm of chromosome 4",
            "attributes": null
          },
          {
            "code": "1003414003",
            "description": "Medial duplication of chromosome 14",
            "attributes": null
          },
          {
            "code": "1003415002",
            "description": "Medial duplication of long arm of chromosome 1",
            "attributes": null
          },
          {
            "code": "1003416001",
            "description": "Medial duplication of chromosome 13",
            "attributes": null
          },
          {
            "code": "1003417005",
            "description": "Medial deletion of short arm of chromosome 1",
            "attributes": null
          },
          {
            "code": "1003418000",
            "description": "Medial deletion of long arm of chromosome 1",
            "attributes": null
          },
          {
            "code": "1003419008",
            "description": "Medial deletion of long arm of chromosome 7",
            "attributes": null
          },
          {
            "code": "1003420002",
            "description": "Medial deletion of long arm of chromosome 9",
            "attributes": null
          },
          {
            "code": "1003444000",
            "description": "Type 3 lissencephaly",
            "attributes": null
          },
          {
            "code": "1003447007",
            "description": "Pelizaeus-Merzbacher disease null syndrome",
            "attributes": null
          },
          {
            "code": "1003449005",
            "description": "Paternal 14q32.2 microdeletion",
            "attributes": null
          },
          {
            "code": "1003847003",
            "description": "Pyruvate dehydrogenase phosphatase deficiency",
            "attributes": null
          },
          {
            "code": "1003849000",
            "description": "Pyruvate dehydrogenase complex E2 subunit deficiency",
            "attributes": null
          },
          {
            "code": "1003850000",
            "description": "Pyruvate dehydrogenase complex E1-alpha subunit deficiency",
            "attributes": null
          },
          {
            "code": "1003851001",
            "description": "Pyruvate dehydrogenase complex E1 beta subunit deficiency",
            "attributes": null
          },
          {
            "code": "1003858007",
            "description": "Rhizomelic chondrodysplasia punctata type 3",
            "attributes": null
          },
          {
            "code": "1003860009",
            "description": "Rhizomelic chondrodysplasia punctata type 2",
            "attributes": null
          },
          {
            "code": "1003862001",
            "description": "Rhizomelic chondrodysplasia punctata type 1",
            "attributes": null
          },
          {
            "code": "1003864000",
            "description": "Proximal duplication of long arm of chromosome 5",
            "attributes": null
          },
          {
            "code": "1003865004",
            "description": "Proximal duplication of long arm of chromosome 6",
            "attributes": null
          },
          {
            "code": "1003866003",
            "description": "Proximal duplication of long arm of chromosome 3",
            "attributes": null
          },
          {
            "code": "1003867007",
            "description": "Proximal duplication of long arm of chromosome 4",
            "attributes": null
          },
          {
            "code": "1003868002",
            "description": "Proximal duplication of long arm of chromosome 18",
            "attributes": null
          },
          {
            "code": "1003869005",
            "description": "Proximal duplication of long arm of chromosome 2",
            "attributes": null
          },
          {
            "code": "1003870006",
            "description": "Uniparental disomy of paternal origin of chromosome 4",
            "attributes": null
          },
          {
            "code": "1003871005",
            "description": "Uniparental disomy of paternal origin of chromosome 15",
            "attributes": null
          },
          {
            "code": "1003872003",
            "description": "Uniparental disomy of paternal origin of chromosome 14",
            "attributes": null
          },
          {
            "code": "1003873008",
            "description": "Uniparental disomy of paternal origin of chromosome 11",
            "attributes": null
          },
          {
            "code": "1003875001",
            "description": "Proximal duplication of long arm of chromosome 17",
            "attributes": null
          },
          {
            "code": "1003876000",
            "description": "Proximal duplication of long arm of chromosome 12",
            "attributes": null
          },
          {
            "code": "1003877009",
            "description": "Pfeiffer syndrome type 1",
            "attributes": null
          },
          {
            "code": "1003878004",
            "description": "Proximal duplication of long arm of chromosome 16",
            "attributes": null
          },
          {
            "code": "1003880005",
            "description": "Proximal duplication of long arm of chromosome 10",
            "attributes": null
          },
          {
            "code": "1003881009",
            "description": "Pelizaeus-Merzbacher disease in female carrier",
            "attributes": null
          },
          {
            "code": "1003882002",
            "description": "Proximal duplication of long arm of chromosome 11",
            "attributes": null
          },
          {
            "code": "1003883007",
            "description": "Proximal duplication of short arm of chromosome 9",
            "attributes": null
          },
          {
            "code": "1003885000",
            "description": "Proximal duplication of short arm of chromosome 7",
            "attributes": null
          },
          {
            "code": "1003886004",
            "description": "Proximal duplication of short arm of chromosome 8",
            "attributes": null
          },
          {
            "code": "1003887008",
            "description": "Proximal duplication of short arm of chromosome 3",
            "attributes": null
          },
          {
            "code": "1003888003",
            "description": "Proximal duplication of short arm of chromosome 6",
            "attributes": null
          },
          {
            "code": "1003889006",
            "description": "Proximal duplication of short arm of chromosome 2",
            "attributes": null
          },
          {
            "code": "1003890002",
            "description": "Proximal duplication of long arm of chromosome 9",
            "attributes": null
          },
          {
            "code": "1003891003",
            "description": "Proximal duplication of short arm of chromosome 1",
            "attributes": null
          },
          {
            "code": "1003892005",
            "description": "Proximal duplication of long arm of chromosome 7",
            "attributes": null
          },
          {
            "code": "1003893000",
            "description": "Proximal duplication of long arm of chromosome 8",
            "attributes": null
          },
          {
            "code": "1003894006",
            "description": "Proximal deletion of long arm of chromosome 8",
            "attributes": null
          },
          {
            "code": "1003895007",
            "description": "Proximal deletion of long arm of chromosome 9",
            "attributes": null
          },
          {
            "code": "1003896008",
            "description": "Proximal deletion of long arm of chromosome 6",
            "attributes": null
          },
          {
            "code": "1003897004",
            "description": "Proximal deletion of long arm of chromosome 7",
            "attributes": null
          },
          {
            "code": "1003898009",
            "description": "Proximal deletion of long arm of chromosome 5",
            "attributes": null
          },
          {
            "code": "1003899001",
            "description": "Proximal deletion of long arm of chromosome 3",
            "attributes": null
          },
          {
            "code": "1003900006",
            "description": "Proximal deletion of long arm of chromosome 4",
            "attributes": null
          },
          {
            "code": "1003901005",
            "description": "Proximal deletion of long arm of chromosome 18",
            "attributes": null
          },
          {
            "code": "1003902003",
            "description": "Proximal deletion of long arm of chromosome 2",
            "attributes": null
          },
          {
            "code": "1003903008",
            "description": "Proximal deletion of long arm of chromosome 16",
            "attributes": null
          },
          {
            "code": "1003904002",
            "description": "Proximal deletion of long arm of chromosome 17",
            "attributes": null
          },
          {
            "code": "1003905001",
            "description": "Proximal duplication of chromosome 21",
            "attributes": null
          },
          {
            "code": "1003906000",
            "description": "Proximal duplication of long arm of chromosome 1",
            "attributes": null
          },
          {
            "code": "1003907009",
            "description": "Proximal duplication of chromosome 14",
            "attributes": null
          },
          {
            "code": "1003908004",
            "description": "Proximal duplication of chromosome 15",
            "attributes": null
          },
          {
            "code": "1003909007",
            "description": "Proximal duplication of chromosome 13",
            "attributes": null
          },
          {
            "code": "1003910002",
            "description": "Proximal deletion of short arm of chromosome 8",
            "attributes": null
          },
          {
            "code": "1003911003",
            "description": "Proximal deletion of short arm of chromosome 9",
            "attributes": null
          },
          {
            "code": "1003912005",
            "description": "Proximal deletion of short arm of chromosome 6",
            "attributes": null
          },
          {
            "code": "1003913000",
            "description": "Proximal deletion of short arm of chromosome 7",
            "attributes": null
          },
          {
            "code": "1003914006",
            "description": "Proximal deletion of short arm of chromosome 1",
            "attributes": null
          },
          {
            "code": "1003915007",
            "description": "Proximal deletion of short arm of chromosome 3",
            "attributes": null
          },
          {
            "code": "1003916008",
            "description": "Pfeiffer syndrome type 2",
            "attributes": null
          },
          {
            "code": "1003918009",
            "description": "Pfeiffer syndrome type 3",
            "attributes": null
          },
          {
            "code": "1003920007",
            "description": "Sabinas brittle hair syndrome",
            "attributes": null
          },
          {
            "code": "1003922004",
            "description": "Rothmund Thomson syndrome type 1",
            "attributes": null
          },
          {
            "code": "1003929008",
            "description": "Proximal deletion of long arm of chromosome 11",
            "attributes": null
          },
          {
            "code": "1003930003",
            "description": "Proximal deletion of long arm of chromosome 12",
            "attributes": null
          },
          {
            "code": "1003931004",
            "description": "Proximal deletion of long arm of chromosome 10",
            "attributes": null
          },
          {
            "code": "1003932006",
            "description": "Proximal deletion of chromosome 21",
            "attributes": null
          },
          {
            "code": "1003933001",
            "description": "Proximal deletion of long arm of chromosome 1",
            "attributes": null
          },
          {
            "code": "1003934007",
            "description": "Proximal deletion of chromosome 14",
            "attributes": null
          },
          {
            "code": "1003935008",
            "description": "Proximal deletion of chromosome 15",
            "attributes": null
          },
          {
            "code": "1003937000",
            "description": "Proximal deletion of chromosome 13",
            "attributes": null
          },
          {
            "code": "1010276004",
            "description": "Ring chromosome",
            "attributes": null
          },
          {
            "code": "1010613009",
            "description": "Tetrasomy 15q",
            "attributes": null
          },
          {
            "code": "1010638004",
            "description": "Waardenburg syndrome type 3",
            "attributes": null
          },
          {
            "code": "1010663004",
            "description": "Subcortical nodular heterotopia",
            "attributes": null
          },
          {
            "code": "1010668008",
            "description": "Stickler syndrome type 1",
            "attributes": null
          },
          {
            "code": "1035691000000104",
            "description": "Has birth to 25 education, health and care plan",
            "attributes": null
          },
          {
            "code": "10406007",
            "description": "Lesch-Nyhan syndrome",
            "attributes": null
          },
          {
            "code": "10567003",
            "description": "Tetrasomy X syndrome",
            "attributes": null
          },
          {
            "code": "10741005",
            "description": "Lipid storage disease",
            "attributes": null
          },
          {
            "code": "108101000000105",
            "description": "Leprechaunism",
            "attributes": null
          },
          {
            "code": "111306001",
            "description": "Multiple lentigines syndrome",
            "attributes": null
          },
          {
            "code": "111307005",
            "description": "Leprechaunism syndrome",
            "attributes": null
          },
          {
            "code": "111308000",
            "description": "Neurologic form of cretinism",
            "attributes": null
          },
          {
            "code": "111383007",
            "description": "Dysmorphic sialidosis, juvenile form",
            "attributes": null
          },
          {
            "code": "111395007",
            "description": "Arginine vasopressin resistance",
            "attributes": null
          },
          {
            "code": "111396008",
            "description": "Chédiak-Higashi syndrome",
            "attributes": null
          },
          {
            "code": "111397004",
            "description": "Saccharopinuria",
            "attributes": null
          },
          {
            "code": "111398009",
            "description": "Cystinosis",
            "attributes": null
          },
          {
            "code": "11380006",
            "description": "Mucopolysaccharidosis",
            "attributes": null
          },
          {
            "code": "1145155005",
            "description": "Lead and/or lead compound poisoning",
            "attributes": null
          },
          {
            "code": "1148758003",
            "description": "Congenital microcephaly",
            "attributes": null
          },
          {
            "code": "1149087003",
            "description": "Congenital microencephaly",
            "attributes": null
          },
          {
            "code": "1149103000",
            "description": "Citrullinemia type I",
            "attributes": null
          },
          {
            "code": "1156799009",
            "description": "Juvenile polyposis of infancy",
            "attributes": null
          },
          {
            "code": "1156803005",
            "description": "Neonatal glycine encephalopathy",
            "attributes": null
          },
          {
            "code": "1156813002",
            "description": "Gaucher disease with ophthalmoplegia and cardiovascular calcification",
            "attributes": null
          },
          {
            "code": "1162462009",
            "description": "Angelman syndrome due to maternal monosomy 15q11q13",
            "attributes": null
          },
          {
            "code": "1162839003",
            "description": "XK aprosencephaly syndrome",
            "attributes": null
          },
          {
            "code": "1162864000",
            "description": "Familial porencephaly",
            "attributes": null
          },
          {
            "code": "1167371007",
            "description": "Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome",
            "attributes": null
          },
          {
            "code": "1167373005",
            "description": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder",
            "attributes": null
          },
          {
            "code": "1169356004",
            "description": "Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome",
            "attributes": null
          },
          {
            "code": "1169359006",
            "description": "Tall stature, intellectual disability, renal anomalies syndrome",
            "attributes": null
          },
          {
            "code": "1172588008",
            "description": "Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome",
            "attributes": null
          },
          {
            "code": "1172590009",
            "description": "Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome",
            "attributes": null
          },
          {
            "code": "1172591008",
            "description": "Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome",
            "attributes": null
          },
          {
            "code": "1172593006",
            "description": "Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome",
            "attributes": null
          },
          {
            "code": "1172594000",
            "description": "Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome",
            "attributes": null
          },
          {
            "code": "1172624000",
            "description": "Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome",
            "attributes": null
          },
          {
            "code": "1172627007",
            "description": "Early-onset epilepsy, intellectual disability, brain anomalies syndrome",
            "attributes": null
          },
          {
            "code": "1172633003",
            "description": "Camptodactyly syndrome Guadalajara type 3",
            "attributes": null
          },
          {
            "code": "1172683008",
            "description": "Microcephaly, congenital cataract, psoriasiform dermatitis syndrome",
            "attributes": null
          },
          {
            "code": "1172685001",
            "description": "Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome",
            "attributes": null
          },
          {
            "code": "1172696009",
            "description": "Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome",
            "attributes": null
          },
          {
            "code": "1172843003",
            "description": "Combined oxidative phosphorylation defect type 29",
            "attributes": null
          },
          {
            "code": "1172844009",
            "description": "Combined oxidative phosphorylation defect type 27",
            "attributes": null
          },
          {
            "code": "1172889005",
            "description": "Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome",
            "attributes": null
          },
          {
            "code": "1172898008",
            "description": "Kosaki overgrowth syndrome",
            "attributes": null
          },
          {
            "code": "1172899000",
            "description": "Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome",
            "attributes": null
          },
          {
            "code": "1172900005",
            "description": "Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome",
            "attributes": null
          },
          {
            "code": "1173036000",
            "description": "Combined oxidative phosphorylation defect type 23",
            "attributes": null
          },
          {
            "code": "1173998003",
            "description": "Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome",
            "attributes": null
          },
          {
            "code": "1177173001",
            "description": "Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome",
            "attributes": null
          },
          {
            "code": "1177175008",
            "description": "Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome",
            "attributes": null
          },
          {
            "code": "1177178005",
            "description": "Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome",
            "attributes": null
          },
          {
            "code": "1179282009",
            "description": "Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract",
            "attributes": null
          },
          {
            "code": "1179283004",
            "description": "Metopic ridging, ptosis, facial dysmorphism syndrome",
            "attributes": null
          },
          {
            "code": "1186710001",
            "description": "Leukoencephalopathy with calcifications and cysts",
            "attributes": null
          },
          {
            "code": "1186711002",
            "description": "G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome",
            "attributes": null
          },
          {
            "code": "1186730002",
            "description": "Gabriele-de Vries syndrome",
            "attributes": null
          },
          {
            "code": "1186734006",
            "description": "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction",
            "attributes": null
          },
          {
            "code": "1186861004",
            "description": "Classical pantothenate kinase associated neurodegeneration",
            "attributes": null
          },
          {
            "code": "1187045009",
            "description": "Aicardi Goutieres syndrome type 1",
            "attributes": null
          },
          {
            "code": "1187046005",
            "description": "Aicardi Goutieres syndrome type 2",
            "attributes": null
          },
          {
            "code": "1187047001",
            "description": "Aicardi Goutieres syndrome type 3",
            "attributes": null
          },
          {
            "code": "1187048006",
            "description": "Aicardi Goutieres syndrome type 4",
            "attributes": null
          },
          {
            "code": "1187049003",
            "description": "Aicardi Goutieres syndrome type 5",
            "attributes": null
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            "description": "Autosomal recessive spastic paraplegia type 77",
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            "description": "Cutaneous mastocytosis, short stature, hearing loss syndrome",
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            "code": "722477003",
            "description": "Toriello Carey syndrome",
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            "code": "722763000",
            "description": "Infantile dystonia parkinsonism",
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            "code": "722859001",
            "description": "PTEN hamartoma tumor syndrome",
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            "code": "723307008",
            "description": "Ethylmalonic encephalopathy",
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            "code": "723359002",
            "description": "Familial acute necrotizing encephalopathy",
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            "code": "723365002",
            "description": "Hypotrichosis and intellectual disability syndrome Lopes type",
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            "code": "723405001",
            "description": "Microlissencephaly micromelia syndrome",
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            "code": "723406000",
            "description": "Embryopathy caused by mycophenolate mofetil",
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            "code": "723439002",
            "description": "Native American myopathy",
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            "code": "723444009",
            "description": "Noonan syndrome-like disorder with loose anagen hair",
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            "code": "723448007",
            "description": "Polyvalvular heart disease syndrome",
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            "code": "723454008",
            "description": "Phosphoribosylpyrophosphate synthetase superactivity",
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            "code": "723504000",
            "description": "Ramos Arroyo syndrome",
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            "code": "723551003",
            "description": "Trichothiodystrophy",
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            "code": "723621000",
            "description": "Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome",
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            "code": "723622007",
            "description": "X-linked spastic paraplegia type 2",
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            "code": "723675006",
            "description": "Sialidosis type 1",
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            "code": "723820001",
            "description": "Autosomal dominant spastic paraplegia type 4",
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            "code": "723825006",
            "description": "Autosomal recessive spastic paraplegia type 55",
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            "code": "723995003",
            "description": "Schimke immuno-osseous dysplasia",
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            "code": "724039002",
            "description": "Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency",
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            "code": "724065003",
            "description": "Autosomal recessive posterior column ataxia and retinitis pigmentosa",
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            "code": "724072002",
            "description": "Paroxysmal exertion-induced dyskinesia",
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            "code": "724097003",
            "description": "Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome",
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            "code": "724137002",
            "description": "Macrocephaly, obesity, mental disability, ocular abnormality syndrome",
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            "code": "724138007",
            "description": "Mitochondrial myopathy with sideroblastic anemia syndrome",
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            "code": "724142005",
            "description": "Carbohydrate deficient glycoprotein syndrome type 2a",
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            "code": "724146008",
            "description": "Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria",
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            "code": "724173009",
            "description": "Maternally inherited cardiomyopathy and hearing loss syndrome",
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            "code": "724177005",
            "description": "Ligase 4 syndrome",
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            "code": "724178000",
            "description": "Laryngeal abductor paralysis with intellectual disability syndrome",
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            "code": "724208006",
            "description": "Keutel syndrome",
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            "code": "724226009",
            "description": "Infantile osteopetrosis with neuroaxonal dysplasia syndrome",
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            "code": "724351008",
            "description": "Hereditary hyperekplexia",
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            "code": "724576005",
            "description": "Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy",
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            "code": "725026008",
            "description": "Hepatic glycogen synthase deficiency",
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            "code": "725030006",
            "description": "Familial scaphocephaly syndrome McGillivray type",
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            "code": "725044000",
            "description": "Carbohydrate deficient glycoprotein syndrome type 1o",
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            "code": "725079003",
            "description": "Congenital disorder of glycosylation type 1j",
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          {
            "code": "725142004",
            "description": "Atelosteogenesis type 3",
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            "code": "725146001",
            "description": "Atypical juvenile parkinsonism",
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            "code": "725166005",
            "description": "Autosomal recessive omodysplasia",
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            "code": "725394006",
            "description": "Autosomal recessive ataxia due to ubiquinone deficiency",
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            "code": "725433003",
            "description": "Autosomal recessive cerebellar ataxia Beauce type",
            "attributes": null
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          {
            "code": "725589005",
            "description": "Bullous dystrophy macular type",
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            "code": "7259005",
            "description": "Mucopolysaccharidosis IV-A",
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            "code": "725911008",
            "description": "Pierre Robin sequence, congenital heart defect, talipes syndrome",
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            "code": "726021008",
            "description": "Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency",
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            "code": "7265005",
            "description": "Glycogen storage disease, type I",
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            "code": "726607007",
            "description": "Autosomal recessive spastic paraplegia type 26",
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            "code": "726609005",
            "description": "Autosomal recessive spastic paraplegia type 64",
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            "code": "726614009",
            "description": "Autosomal recessive limb girdle muscular dystrophy type 2P",
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          {
            "code": "726615005",
            "description": "Autosomal recessive limb girdle muscular dystrophy type 2Q",
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            "code": "726617002",
            "description": "Autosomal recessive limb girdle muscular dystrophy type 2N",
            "attributes": null
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            "code": "726618007",
            "description": "Autosomal recessive limb girdle muscular dystrophy type 2M",
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            "code": "726621009",
            "description": "Caudal appendage deafness syndrome",
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            "code": "726669007",
            "description": "Central nervous system calcification, deafness, tubular acidosis, anemia syndrome",
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            "code": "726672000",
            "description": "Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome",
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            "code": "72991005",
            "description": "Polyploidy syndrome",
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            "code": "73123008",
            "description": "Mucopolysaccharidosis type I-S",
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            "code": "73146005",
            "description": "Hunter's syndrome, severe form",
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            "code": "732929002",
            "description": "Autosomal recessive limb girdle muscular dystrophy type 2S",
            "attributes": null
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            "code": "732930007",
            "description": "Autosomal recessive limb girdle muscular dystrophy type 2T",
            "attributes": null
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            "code": "732948003",
            "description": "Autosomal dominant spastic paraplegia type 10",
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            "code": "732958004",
            "description": "Spastic paraplegia with precocious puberty syndrome",
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            "code": "732959007",
            "description": "Beta-propeller protein-associated neurodegeneration",
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            "code": "733033001",
            "description": "Spinocerebellar ataxia dysmorphism syndrome",
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            "code": "733050004",
            "description": "Dysmorphism, short stature, deafness, disorder of sex development syndrome",
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            "code": "733062000",
            "description": "Marfanoid habitus with autosomal recessive intellectual disability syndrome",
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            "code": "733066002",
            "description": "Trigonocephaly, short stature, developmental delay syndrome",
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            "code": "733084000",
            "description": "Congenital disorder of glycosylation type 1n",
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            "code": "733088002",
            "description": "Preaxial polydactyly, colobomata, intellectual disability syndrome",
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            "code": "733116005",
            "description": "Aniridia, renal agenesis, psychomotor retardation syndrome",
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            "code": "733418003",
            "description": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy",
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            "code": "733469003",
            "description": "Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome",
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            "code": "733472005",
            "description": "Microcephalus, glomerulonephritis, marfanoid habitus syndrome",
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            "code": "733519008",
            "description": "17q12 microdeletion syndrome",
            "attributes": null
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            "code": "733521003",
            "description": "Distal 16p11.2 microdeletion syndrome",
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            "code": "733604003",
            "description": "Microcephalus, lymphedema, chorioretinopathy syndrome",
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            "code": "733606001",
            "description": "Summitt syndrome",
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            "code": "733623005",
            "description": "Autism spectrum disorder, epilepsy, arthrogryposis syndrome",
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            "code": "733630004",
            "description": "Deficiency of alpha-ketoglutarate dehydrogenase",
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            "code": "733636005",
            "description": "3-phosphoglycerate dehydrogenase deficiency juvenile form",
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            "code": "733637001",
            "description": "3-phosphoglycerate dehydrogenase deficiency infantile form",
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            "code": "734022008",
            "description": "Wolfram-like syndrome",
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            "code": "734173003",
            "description": "Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome",
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            "code": "734434007",
            "description": "Pyridoxine-dependent developmental and epileptic encephalopathy",
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            "code": "735421004",
            "description": "Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome",
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            "code": "73893000",
            "description": "Congenital toxoplasmosis",
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            "code": "7484005",
            "description": "Double outlet right ventricle",
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            "code": "74911008",
            "description": "Dyskeratosis congenita",
            "attributes": null
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            "code": "74912001",
            "description": "Hereditary methemoglobinemia due to globin chain mutation",
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            "code": "75019001",
            "description": "Athetoid cerebral palsy",
            "attributes": null
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          {
            "code": "75065003",
            "description": "Endemic cretinism",
            "attributes": null
          },
          {
            "code": "75238000",
            "description": "Mucopolysaccharidosis III-C",
            "attributes": null
          },
          {
            "code": "75610003",
            "description": "Mucopolysaccharidosis type I",
            "attributes": null
          },
          {
            "code": "75659004",
            "description": "Acquired partial lipodystrophy",
            "attributes": null
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          {
            "code": "7573000",
            "description": "Classical phenylketonuria",
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          {
            "code": "75968004",
            "description": "Sotos' syndrome",
            "attributes": null
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          {
            "code": "75979009",
            "description": "Johanson-Blizzard syndrome",
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            "code": "760811000000108",
            "description": "Dent's disease",
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          {
            "code": "7611002",
            "description": "Septo-optic dysplasia sequence",
            "attributes": null
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            "code": "763061004",
            "description": "20q11.2 microduplication syndrome",
            "attributes": null
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            "code": "763130006",
            "description": "Cleft palate, large ears, small head syndrome",
            "attributes": null
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            "code": "763204003",
            "description": "Combined oxidative phosphorylation defect type 7",
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          {
            "code": "763274002",
            "description": "Distal trisomy 5q syndrome",
            "attributes": null
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          {
            "code": "763311001",
            "description": "Adrenomyodystrophy",
            "attributes": null
          },
          {
            "code": "763312008",
            "description": "Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome",
            "attributes": null
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            "code": "763348005",
            "description": "Autosomal recessive cerebellar ataxia with late-onset spasticity",
            "attributes": null
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            "code": "763349002",
            "description": "Progressive myoclonic epilepsy with dystonia",
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            "code": "763351003",
            "description": "Spectrin-associated autosomal recessive cerebellar ataxia",
            "attributes": null
          },
          {
            "code": "763353000",
            "description": "Cerebrofacioarticular syndrome",
            "attributes": null
          },
          {
            "code": "763367009",
            "description": "Autosomal recessive spastic paraplegia type 48",
            "attributes": null
          },
          {
            "code": "763400005",
            "description": "X-linked Charcot-Marie-Tooth disease type 4",
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          {
            "code": "763457000",
            "description": "X-linked Charcot-Marie-Tooth disease type 2",
            "attributes": null
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          {
            "code": "763618001",
            "description": "Wiedemann Steiner syndrome",
            "attributes": null
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            "code": "763714006",
            "description": "Familial multiple nevi flammei",
            "attributes": null
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            "code": "763795006",
            "description": "Malan overgrowth syndrome",
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          {
            "code": "763833006",
            "description": "Oro-facial digital syndrome type 1",
            "attributes": null
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            "code": "763837007",
            "description": "Oro-facial digital syndrome type 14",
            "attributes": null
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            "code": "763863002",
            "description": "Pectus excavatum, macrocephaly, dysplastic nails syndrome",
            "attributes": null
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            "code": "763890006",
            "description": "Short stature with delayed bone age due to thyroid hormone metabolism deficiency",
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          {
            "code": "764435003",
            "description": "17q12 microduplication syndrome",
            "attributes": null
          },
          {
            "code": "764440006",
            "description": "19p13.13 microdeletion syndrome",
            "attributes": null
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            "code": "764522009",
            "description": "Familial focal epilepsy with variable foci",
            "attributes": null
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          {
            "code": "764621006",
            "description": "Mosaic trisomy 16 syndrome",
            "attributes": null
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          {
            "code": "764622004",
            "description": "Mosaic trisomy 17 syndrome",
            "attributes": null
          },
          {
            "code": "764686003",
            "description": "Autosomal recessive spastic paraplegia type 15",
            "attributes": null
          },
          {
            "code": "764688002",
            "description": "Autosomal recessive spastic paraplegia type 35",
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            "code": "764703002",
            "description": "7p22.1 microduplication syndrome",
            "attributes": null
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          {
            "code": "764725008",
            "description": "9p13 microdeletion syndrome",
            "attributes": null
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          {
            "code": "764733009",
            "description": "Progressive external ophthalmoplegia, myopathy, emaciation syndrome",
            "attributes": null
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            "code": "764734003",
            "description": "Autosomal recessive spastic paraplegia type 21",
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            "code": "764812008",
            "description": "Autosomal recessive myogenic arthrogryposis multiplex congenita",
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            "code": "764860006",
            "description": "3-methylglutaconic aciduria type 7",
            "attributes": null
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            "code": "764956007",
            "description": "Larsen-like osseous dysplasia, short stature syndrome",
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            "code": "765093009",
            "description": "Rolandic epilepsy, speech dyspraxia syndrome",
            "attributes": null
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          {
            "code": "765140006",
            "description": "8p23.1 duplication syndrome",
            "attributes": null
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            "code": "765170001",
            "description": "Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy",
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            "code": "765326001",
            "description": "Familial glucocorticoid deficiency",
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            "code": "765489006",
            "description": "Ring chromosome 7 syndrome",
            "attributes": null
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            "code": "765757003",
            "description": "Bilateral polymicrogyria",
            "attributes": null
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          {
            "code": "766050000",
            "description": "Distal monosomy 15q syndrome",
            "attributes": null
          },
          {
            "code": "766053003",
            "description": "Distal trisomy 1p36 syndrome",
            "attributes": null
          },
          {
            "code": "766237006",
            "description": "Maternal uniparental disomy of chromosome 2",
            "attributes": null
          },
          {
            "code": "766238001",
            "description": "Maternal uniparental disomy of chromosome 4",
            "attributes": null
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          {
            "code": "766239009",
            "description": "Maternal uniparental disomy of chromosome 6",
            "attributes": null
          },
          {
            "code": "766240006",
            "description": "Maternal uniparental disomy of chromosome 9",
            "attributes": null
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          {
            "code": "766251006",
            "description": "Lethal infantile mitochondrial myopathy",
            "attributes": null
          },
          {
            "code": "76670001",
            "description": "Duchenne muscular dystrophy",
            "attributes": null
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          {
            "code": "766710005",
            "description": "Isolated focal cortical dysplasia",
            "attributes": null
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          {
            "code": "766755003",
            "description": "Tetrasomy 5p syndrome",
            "attributes": null
          },
          {
            "code": "766766005",
            "description": "1p31p32 microdeletion syndrome",
            "attributes": null
          },
          {
            "code": "766767001",
            "description": "Autosomal recessive spastic paraplegia type 67",
            "attributes": null
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          {
            "code": "766815007",
            "description": "Perioral myoclonia with absences",
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            "code": "766824003",
            "description": "Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder",
            "attributes": null
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            "code": "767263007",
            "description": "22q11.2 deletion syndrome",
            "attributes": null
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            "code": "768666006",
            "description": "Syntaxin binding protein 1 developmental and epileptic encephalopathy",
            "attributes": null
          },
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            "code": "768843007",
            "description": "Tall stature, intellectual disability, facial dysmorphism syndrome",
            "attributes": null
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          {
            "code": "768846004",
            "description": "N-glycanase 1 congenital disorder of deglycosylation",
            "attributes": null
          },
          {
            "code": "768929003",
            "description": "Trisomy 8p syndrome",
            "attributes": null
          },
          {
            "code": "770404004",
            "description": "Autosomal recessive chorioretinopathy and microcephaly syndrome",
            "attributes": null
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          {
            "code": "770410004",
            "description": "Distal monosomy 14q syndrome",
            "attributes": null
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          {
            "code": "770431001",
            "description": "Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy",
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            "code": "770560008",
            "description": "Lissencephaly due to LIS1 mutation",
            "attributes": null
          },
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            "code": "770565003",
            "description": "Microcephalic primordial dwarfism Dauber type",
            "attributes": null
          },
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            "code": "770604006",
            "description": "X-linked cerebral, cerebellar, coloboma syndrome",
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          },
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            "code": "770625006",
            "description": "Combined immunodeficiency with faciooculoskeletal anomalies syndrome",
            "attributes": null
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          {
            "code": "770629000",
            "description": "Distal 17p13.1 microdeletion syndrome",
            "attributes": null
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            "code": "770665005",
            "description": "Non-distal monosomy 10q",
            "attributes": null
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            "code": "770669004",
            "description": "Paternal uniparental disomy of chromosome 5",
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          {
            "code": "770680004",
            "description": "Prader-Willi-like syndrome",
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            "code": "770720005",
            "description": "Autosomal recessive spastic paraplegia type 58",
            "attributes": null
          },
          {
            "code": "770721009",
            "description": "Microcephaly, thin corpus callosum, intellectual disability syndrome",
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            "code": "770722002",
            "description": "Proximal myopathy with extrapyramidal signs",
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            "code": "770723007",
            "description": "Optic atrophy, intellectual disability syndrome",
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            "code": "770724001",
            "description": "Autosomal recessive spastic paraplegia type 70",
            "attributes": null
          },
          {
            "code": "770725000",
            "description": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly",
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            "code": "770751003",
            "description": "Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome",
            "attributes": null
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            "code": "770754006",
            "description": "2p21 microdeletion syndrome without cystinuria",
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            "code": "770756008",
            "description": "2p13.2 microdeletion syndrome",
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            "code": "770790004",
            "description": "Developmental delay with autism spectrum disorder and gait instability",
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            "code": "770793002",
            "description": "5p13 microduplication syndrome",
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            "code": "770794008",
            "description": "11p15.4 microduplication syndrome",
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            "code": "770898002",
            "description": "Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency",
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            "code": "770902008",
            "description": "Distal monosomy 12p",
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            "code": "770905005",
            "description": "Distal 7q11.23 microdeletion syndrome",
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            "code": "770941005",
            "description": "Alopecia, progressive neurological defect, endocrinopathy syndrome",
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            "code": "771013004",
            "description": "Pilotto syndrome",
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            "code": "771074000",
            "description": "Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome",
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            "code": "771077007",
            "description": "Intellectual disability, short stature, hypertelorism syndrome",
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            "code": "771148008",
            "description": "X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome",
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            "code": "771179007",
            "description": "Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome",
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            "code": "771181009",
            "description": "Hypertrichosis cubiti",
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            "code": "771182002",
            "description": "Thumb deformity, alopecia, pigmentation anomaly syndrome",
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            "code": "771272007",
            "description": "Congenital muscular dystrophy due to lamin A/C mutation",
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            "code": "771340007",
            "description": "15q11.2 microdeletion syndrome",
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            "code": "771341006",
            "description": "14q11.2 microduplication syndrome",
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            "code": "771439009",
            "description": "14q22q23 microdeletion syndrome",
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            "code": "771442003",
            "description": "Ogden syndrome",
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            "code": "771448004",
            "description": "Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency",
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            "code": "771469002",
            "description": "Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome",
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            "code": "771470001",
            "description": "Jawad syndrome",
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            "code": "771476007",
            "description": "Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome",
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            "code": "771477003",
            "description": "15q overgrowth syndrome",
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            "code": "772225005",
            "description": "RAB18, member RAS oncogene family deficiency",
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            "code": "77287004",
            "description": "Borderline intellectual disability",
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            "code": "773303005",
            "description": "Spondyloepimetaphyseal dysplasia Genevieve type",
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            "code": "773307006",
            "description": "Zechi Ceide syndrome",
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            "code": "773346008",
            "description": "20p13 microdeletion syndrome",
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            "code": "773398005",
            "description": "Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome",
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            "code": "773404000",
            "description": "Roifman syndrome",
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            "description": "Contiguous ABCD1 DXS1357E deletion syndrome",
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            "description": "Intellectual disability, facial dysmorphism, hand anomalies syndrome",
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            "description": "Xylosyltransferase 1 congenital disorder of glycosylation",
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            "description": "Autosomal recessive spastic paraplegia type 59",
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            "code": "773493002",
            "description": "9q31.1q31.3 microdeletion syndrome",
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            "code": "773494008",
            "description": "14q24.1q24.3 microdeletion syndrome",
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            "code": "773497001",
            "description": "Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome",
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            "description": "13q12.3 microdeletion syndrome",
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            "code": "773548008",
            "description": "Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome",
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            "code": "773551001",
            "description": "Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome",
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            "description": "Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome",
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            "code": "773553003",
            "description": "Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome",
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            "code": "773554009",
            "description": "THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome",
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            "code": "773556006",
            "description": "Short ulna, dysmorphism, hypotonia, intellectual disability syndrome",
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            "code": "773578004",
            "description": "Spondylocostal dysostosis, hypospadias, intellectual disability syndrome",
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            "code": "77358003",
            "description": "Congenital leukocyte adherence deficiency",
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            "code": "773583007",
            "description": "Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome",
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            "description": "Craniofacial dysplasia osteopenia syndrome",
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            "description": "Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome",
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            "description": "Familial infantile gigantism",
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            "code": "773648002",
            "description": "Congenital cataract, hearing loss, severe developmental delay syndrome",
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            "description": "Dihydropyrimidine dehydrogenase deficiency",
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            "description": "Deficiency in anterior pituitary function, variable immunodeficiency syndrome",
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            "description": "Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome",
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            "description": "Deafness with onychodystrophy syndrome",
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            "code": "773768000",
            "description": "Emery Nelson syndrome",
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            "code": "773984007",
            "description": "Piebald trait with neurologic defects syndrome",
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            "description": "Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome",
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            "description": "Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome",
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            "description": "Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome",
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            "description": "Intellectual disability, severe speech delay, mild dysmorphism syndrome",
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            "description": "Growth retardation, mild developmental delay, chronic hepatitis syndrome",
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            "description": "9p partial trisomy syndrome",
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            "description": "Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome",
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            "description": "Temtamy preaxial brachydactyly syndrome",
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            "description": "3q26q27 microdeletion syndrome",
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            "description": "12p12.1 microdeletion syndrome",
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            "description": "Blepharophimosis, intellectual disability syndrome, Verloes type",
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            "description": "Temple syndrome",
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            "description": "Atypical hypotonia cystinuria syndrome",
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            "description": "Ring chromosome 17 syndrome",
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            "description": "Primary non-essential cutis verticis gyrata",
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            "description": "3q26 microduplication syndrome",
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            "description": "Steinert myotonic dystrophy syndrome",
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            "description": "Synaptic Ras GTPase activating protein 1- related intellectual disability",
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            "description": "10q22.3q23.3 microduplication syndrome",
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            "description": "Distal monosomy 4q",
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            "description": "Distal monosomy 7p syndrome",
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            "code": "782690007",
            "description": "Gemignani syndrome",
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            "description": "Non-distal monosomy 12q",
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            "description": "Recessive mitochondrial ataxia syndrome",
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            "description": "Dystonia aphonia syndrome",
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            "description": "Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency",
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            "description": "Congenital pontocerebellar hypoplasia type 10",
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            "description": "Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency",
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            "description": "Autosomal recessive spastic paraplegia type 69",
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            "description": "Autosomal recessive spastic paraplegia type 71",
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            "description": "Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome",
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            "description": "Male emopamil-binding protein disorder with neurological defect",
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            "description": "Lipoic acid synthetase deficiency",
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            "description": "Lipoyl transferase 1 deficiency",
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            "description": "Autosomal recessive spastic paraplegia type 60",
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            "description": "Autosomal recessive spastic paraplegia type 66",
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            "description": "Combined oxidative phosphorylation defect type 11",
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            "description": "Autosomal dominant spastic paraplegia type 38",
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            "description": "Autosomal recessive spastic paraplegia type 56",
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            "description": "Familial infantile myoclonic epilepsy",
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            "description": "Adult-onset autosomal recessive cerebellar ataxia",
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            "description": "Inherited methylmalonic acidemia AND homocystinuria",
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            "description": "Alexander disease",
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            "description": "Wolman's disease",
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            "description": "Mosaic trisomy 1 syndrome",
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            "description": "Sporadic cretinism",
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            "description": "Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language",
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            "description": "Pelizaeus-Merzbacher disease, classic form",
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            "description": "Isovaleryl-coenzyme A dehydrogenase deficiency",
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