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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
19337016 Dominant hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
195344010 Autosomal dominant hereditary disorder en Synonym Active Case insensitive SNOMED CT core
2618831016 AD - Autosomal dominant en Synonym Active Case sensitive SNOMED CT core
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1150 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Banki syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Say Field Coldwell syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Camptodactyly taurinuria syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy with posterior leg and anterior hand involvement Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy with early respiratory muscle involvement Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Carney complex Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Prion protein systemic amyloidosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Long thumb brachydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly myopia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Thumb stiffness, brachydactyly, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephalus, lymphoedema, chorioretinopathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 40 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 38 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Wolfram-like syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hereditary spastic paraplegia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Floating-Harbour syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Renal coloboma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant tubulointerstitial disease Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Keratosis follicularis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial dyskeratotic comedones Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital benign spinal muscular atrophy Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial dyskinesia and facial myokymia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial progressive hyperpigmentation and hypopigmentation of skin Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 37 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hot water reflex epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Velofacioskeletal syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spastic ataxia with congenital miosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hyperprolactinaemia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial vesicoureteral reflux Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Finnish upper limb onset distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated congenital adermatoglyphia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Erythema palmare hereditarium Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial myoclonus of cerebral cortex Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Kelch like family member 9 related early-onset distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital hereditary endothelial dystrophy type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Handigodu type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly elbow wrist dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ankyrin-B syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial focal epilepsy with variable foci Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Branchiootic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant slowed nerve conduction velocity Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Laing early-onset distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores Is a True Autosomal dominant hereditary disorder Inferred relationship Some
King Denborough syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Striate palmoplantar keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Focal palmoplantar and gingival keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial thoracic aortic aneurysm and aortic dissection Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Muscle filaminopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
BAP1 tumour predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2U Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Spheroid body myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Punctate palmoplantar keratoderma type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple benign meningioma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant polycystic kidney disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Metabolic myopathy due to lactate transporter defect Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia due to collagen 9 anomaly Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypertension due to gain-of-function mutation in mineralocorticoid receptor Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Trichodysplasia xeroderma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Generalised basaloid follicular hamartoma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Radio-renal syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Moebius syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary benign acanthosis nigricans Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial generalised lentiginosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Centrofacial lentiginosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ataxia pancytopenia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary hollow viscus myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Late-onset distal myopathy Markesbery Griggs type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial bicuspid aortic valve Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Desmin-related myofibrillar myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Retinal macular dystrophy type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type B2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal hereditary motor neuropathy type 1 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign familial mesial temporal lobe epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Occult macular dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary inclusion body myopathy type 4 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Adult-onset distal myopathy due to valosin containing protein mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
2p13.2 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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