{
  "resourceType": "CodeSystem",
  "id": "recruited-disorders",
  "meta": {
  "versionId": "3",
  "lastUpdated": "2023-04-18T12:12:18.799+00:00"
  },
  "url": "http://genomicsengland.co.uk/recruited-disorders",
  "version": "2023-03-29",
  "name": "100,000 Genomes Project Recruited Disorders List",
  "status": "draft",
  "valueSet": "http://genomicsengland.co.uk/recruited-disorders?vs",
  "content": "complete",
  "concept": [ {
  "code": "CARDIOVASCULAR_DISORDERS",
  "display": "Cardiovascular disorders",
  "concept": [ {
    "code": "ARTERIOPATHIES",
    "display": "Arteriopathies",
    "concept": [ {
    "code": "FAMILIAL_CEREBRAL_SMALL_VESSEL_DISEASE",
    "display": "Familial cerebral small vessel disease"
    }, {
    "code": "FAMILIAL_HYPERCHOLESTEROLAEMIA",
    "display": "Familial Hypercholesterolaemia"
    }, {
    "code": "SEVERE_HYPERTRIGLYCERIDAEMIA",
    "display": "Severe hypertriglyceridaemia"
    } ]
  }, {
    "code": "CARDIAC_ARRHYTHMIA",
    "display": "Cardiac arrhythmia",
    "concept": [ {
    "code": "BRUGADA_SYNDROME",
    "display": "Brugada syndrome"
    }, {
    "code": "CATECHOLAMINERGIC_POLYMORPHIC_VENTRICULAR_TACHYCARDIA",
    "display": "Catecholaminergic Polymorphic Ventricular Tachycardia"
    }, {
    "code": "IDIOPATHIC_VENTRICULAR_FIBRILLATION",
    "display": "Idiopathic ventricular fibrillation"
    }, {
    "code": "LONG_QT_SYNDROME",
    "display": "Long QT syndrome"
    }, {
    "code": "SHORT_QT_SYNDROME",
    "display": "Short QT syndrome"
    }, {
    "code": "UNEXPLAINED_SUDDEN_DEATH_IN_THE_YOUNG",
    "display": "Unexplained sudden death in the young"
    } ]
  }, {
    "code": "CARDIOMYOPATHY",
    "display": "Cardiomyopathy",
    "concept": [ {
    "code": "ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY",
    "display": "Arrhythmogenic Right Ventricular Cardiomyopathy"
    }, {
    "code": "DILATED_CARDIOMYOPATHY",
    "display": "Dilated Cardiomyopathy"
    }, {
    "code": "DILATED_CARDIOMYOPATHY_AND_CONDUCTION_DEFECTS",
    "display": "Dilated Cardiomyopathy and conduction defects"
    }, {
    "code": "HYPERTROPHIC_CARDIOMYOPATHY",
    "display": "Hypertrophic Cardiomyopathy"
    }, {
    "code": "LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY",
    "display": "Left Ventricular Noncompaction Cardiomyopathy"
    } ]
  }, {
    "code": "CONGENITAL_HEART_DISEASE",
    "display": "Congenital heart disease",
    "concept": [ {
    "code": "FAMILIAL_CONGENITAL_HEART_DISEASE",
    "display": "Familial congenital heart disease"
    }, {
    "code": "SYNDROMIC_CONGENITAL_HEART_DISEASE",
    "display": "Syndromic congenital heart disease"
    } ]
  }, {
    "code": "CONNECTIVE_TISSUES_DISORDERS_AND_AORTOPATHIES",
    "display": "Connective Tissues Disorders and Aortopathies",
    "concept": [ {
    "code": "FAMILIAL_THORACIC_AORTIC_ANEURYSM_DISEASE",
    "display": "Familial Thoracic Aortic Aneurysm Disease"
    } ]
  }, {
    "code": "LYMPHATIC_DISORDERS",
    "display": "Lymphatic disorders",
    "concept": [ {
    "code": "LIPOEDEMA_DISEASE",
    "display": "Lipoedema disease"
    }, {
    "code": "LYMPHOEDEMA_DISTICHIASIS",
    "display": "Lymphoedema distichiasis"
    }, {
    "code": "MEIGE_DISEASE",
    "display": "Meige disease"
    }, {
    "code": "MILROY_DISEASE",
    "display": "Milroy disease"
    }, {
    "code": "PRIMARY_LYMPHOEDEMA",
    "display": "Primary lymphoedema"
    } ]
  }, {
    "code": "PULMONARY_HEART_DISEASE",
    "display": "Pulmonary heart disease",
    "concept": [ {
    "code": "PULMONARY_ARTERIAL_HYPERTENSION",
    "display": "Pulmonary arterial hypertension"
    } ]
  } ]
  }, {
  "code": "CILIOPATHIES",
  "display": "Ciliopathies",
  "concept": [ {
    "code": "CONGENITAL_MALFORMATIONS_CAUSED_BY_CILIOPATHIES",
    "display": "Congenital malformations caused by ciliopathies",
    "concept": [ {
    "code": "BARDET_BIEDL_SYNDROME",
    "display": "Bardet-Biedl Syndrome"
    }, {
    "code": "JOUBERT_SYNDROME",
    "display": "Joubert syndrome"
    }, {
    "code": "RARE_MULTISYSTEM_CILIOPATHY_DISORDERS",
    "display": "Rare multisystem ciliopathy disorders"
    } ]
  }, {
    "code": "RESPIRATORY_CILIOPATHIES",
    "display": "Respiratory ciliopathies",
    "concept": [ {
    "code": "NON_CF_BRONCHIECTASIS",
    "display": "Non-CF bronchiectasis"
    }, {
    "code": "PRIMARY_CILIARY_DYSKINESIA",
    "display": "Primary ciliary dyskinesia"
    } ]
  } ]
  }, {
  "code": "DERMATOLOGICAL_DISORDERS",
  "display": "Dermatological disorders",
  "concept": [ {
    "code": "ATOPY",
    "display": "Atopy",
    "concept": [ {
    "code": "SEVERE_MULTI_SYSTEM_ATOPIC_DISEASE_WITH_HIGH_IGE",
    "display": "Severe multi-system atopic disease with high IgE"
    } ]
  }, {
    "code": "AUTOIMMUNE_SKIN_DISORDERS",
    "display": "Autoimmune skin disorders",
    "concept": [ {
    "code": "GENERALISED_PUSTULAR_PSORIASIS",
    "display": "Generalised pustular psoriasis"
    } ]
  }, {
    "code": "ECTODERMAL_DYSPLASIAS",
    "display": "Ectodermal dysplasias",
    "concept": [ {
    "code": "ECTODERMAL_DYSPLASIA_WITHOUT_A_KNOWN_GENE_MUTATION",
    "display": "Ectodermal dysplasia without a known gene mutation"
    } ]
  }, {
    "code": "ICHTHYOSES",
    "display": "Ichthyoses",
    "concept": [ {
    "code": "AUTOSOMAL_RECESSIVE_CONGENITAL_ICHTHYOSIS",
    "display": "Autosomal recessive congenital ichthyosis"
    } ]
  }, {
    "code": "KERATODERMAS",
    "display": "Keratodermas",
    "concept": [ {
    "code": "FAMILIAL_DISSEMINATED_SUPERFICIAL_ACTINIC_POROKERATOSIS",
    "display": "Familial disseminated superficial actinic porokeratosis"
    }, {
    "code": "PALMOPLANTAR_KERATODERMA_AND_ERYTHROKERATODERMAS",
    "display": "Palmoplantar keratoderma and erythrokeratodermas"
    } ]
  }, {
    "code": "NEUROCUTANEOUS_DISORDERS",
    "display": "Neurocutaneous disorders",
    "concept": [ {
    "code": "UNDIAGNOSED_NEUROCUTANEOUS_DISORDERS",
    "display": "Undiagnosed neurocutaneous disorders"
    } ]
  }, {
    "code": "SKIN_ADNEXA_DISORDERS",
    "display": "Skin adnexa disorders",
    "concept": [ {
    "code": "FAMILIAL_CICATRICIAL_ALOPECIA",
    "display": "Familial cicatricial alopecia"
    }, {
    "code": "FAMILIAL_HIDRADENITIS_SUPPURATIVA",
    "display": "Familial hidradenitis suppurativa"
    }, {
    "code": "NON_SYNDROMIC_HYPOTRICHOSIS",
    "display": "Non-syndromic hypotrichosis"
    } ]
  }, {
    "code": "SKIN_FRAGILITY_DISORDERS",
    "display": "Skin fragility disorders",
    "concept": [ {
    "code": "EPIDERMOLYSIS_BULLOSA",
    "display": "Epidermolysis bullosa"
    }, {
    "code": "PEELING_SKIN_SYNDROME",
    "display": "Peeling skin syndrome"
    } ]
  }, {
    "code": "SUN_EXPOSURE_RELATED_CONDITIONS",
    "display": "Sun-exposure related conditions",
    "concept": [ {
    "code": "ERYTHROPOIETIC_PROTOPORPHYRIA_MILD_VARIANT",
    "display": "Erythropoietic protoporphyria, mild variant"
    }, {
    "code": "HYDROA_VACCINIFORME",
    "display": "Hydroa vacciniforme"
    } ]
  } ]
  }, {
  "code": "DYSMORPHIC_AND_CONGENITAL_ABNORMALITY_SYNDROMES",
  "display": "Dysmorphic and congenital abnormality syndromes",
  "concept": [ {
    "code": "AUTOPHAGY_DISORDERS",
    "display": "Autophagy disorders",
    "concept": [ {
    "code": "VICI_SYNDROME_AND_OTHER_AUTOPHAGY_DISORDERS",
    "display": "Vici Syndrome and other autophagy disorders"
    } ]
  }, {
    "code": "BALANCED_TRANSLOCATIONS",
    "display": "Balanced translocations",
    "concept": [ {
    "code": "BALANCED_TRANSLOCATIONS_WITH_AN_UNUSUAL_PHENOTYPE",
    "display": "Balanced translocations with an unusual phenotype"
    } ]
  }, {
    "code": "DNA_REPAIR_DISORDERS",
    "display": "DNA repair disorders",
    "concept": [ {
    "code": "COCKAYNE_SYNDROME",
    "display": "Cockayne syndrome"
    }, {
    "code": "NON_FANCONI_ANAEMIA",
    "display": "Non-Fanconi anaemia"
    }, {
    "code": "PRIMARY_MICROCEPHALY___MICROCEPHALIC_DWARFISM_SPECTRUM",
    "display": "Primary Microcephaly - Microcephalic Dwarfism Spectrum"
    }, {
    "code": "XERODERMA_PIGMENTOSUM_LIKE_DISORDERS",
    "display": "Xeroderma Pigmentosum-like disorders"
    } ]
  }, {
    "code": "DYSMORPHIC_DISORDERS",
    "display": "Dysmorphic disorders",
    "concept": [ {
    "code": "COARSE_FACIAL_FEATURES_INCLUDING_COFFIN_SIRIS_LIKE_DISORDERS",
    "display": "Coarse facial features including Coffin-Siris-like disorders"
    }, {
    "code": "FAMILIAL_NON_SYNDROMIC_CLEFT_LIP_AND_OR_FAMILIAL_CLEFT_PALATE",
    "display": "Familial non-syndromic cleft lip and or familial cleft palate"
    }, {
    "code": "PHACES_SYNDROME",
    "display": "PHACE(S) syndrome"
    }, {
    "code": "RADIAL_DYSPLASIA",
    "display": "Radial dysplasia"
    }, {
    "code": "SYNDROMIC_CLEFT_LIP_AND_OR_CLEFT_PALATE",
    "display": "Syndromic cleft lip and or cleft palate"
    } ]
  }, {
    "code": "FETAL_DISORDERS",
    "display": "Fetal disorders",
    "concept": [ {
    "code": "FETAL_HYDROPS",
    "display": "Fetal hydrops"
    }, {
    "code": "UNEXPLAINED_MONOGENIC_FETAL_DISORDERS",
    "display": "Unexplained monogenic fetal disorders"
    } ]
  }, {
    "code": "KABUKI",
    "display": "Kabuki",
    "concept": [ {
    "code": "KABUKI_SYNDROME",
    "display": "Kabuki syndrome"
    } ]
  }, {
    "code": "LIMB_DISORDERS",
    "display": "Limb disorders",
    "concept": [ {
    "code": "VACTERL_LIKE_PHENOTYPES",
    "display": "VACTERL-like phenotypes"
    } ]
   ...