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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
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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