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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
Cutis laxa, autosomal dominant Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant dyskeratosis congenita Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Atelosteogenesis Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Jackson-Weiss syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dentatorubropallidoluysian degeneration Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital blue dot cataract Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Arteriohepatic dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive myositis ossificans Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hypocalcaemia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cole disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
KBG syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 36 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant vitreoretinochoroidopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
STING-associated vasculopathy with onset in infancy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Caveolin 3 related distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pseudoprimary hyperaldosteronism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
MYH9 related disease Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant keratitis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Nicolaides-Baraitser syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome classic type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial partial lipodystrophy Dunnigan type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aplasia of lacrimal and salivary gland Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial avascular necrosis of head of femur Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Exercise-induced hyperinsulinism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary papillary renal cell carcinoma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndactyly type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndactyly type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Syndactyly type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 7 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 6 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 8 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 10 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 4 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant dopa responsive dystonia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Glomuvenous malformation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary thermosensitive neuropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
GMS syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Gnathodiaphyseal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Transthyretin related familial amyloid cardiomyopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial osteochondritis dissecans Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial spontaneous pneumothorax Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ulna metaphyseal dysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amelo-onycho-hypohidrotic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Reinhardt Pfeiffer mesomelic dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial progressive hyperpigmentation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Deafness craniofacial syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Proximal myotonic myopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ectodermal dysplasia with natal teeth Turnpenny type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Generalised epilepsy and paroxysmal dyskinesia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary motor and sensory neuropathy Okinawa type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly of triphalangeal thumb Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A4 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A6 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 28 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 29 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 31 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial advanced sleep phase syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial isolated arrhythmogenic right ventricular dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, type I Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Epithelial recurrent erosion dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Wellesley Carman French syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Turcot syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Haspeslagh Fryns Muelenaere syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mullerian duct and limb anomalies syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant pterygium of conjunctiva Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spondylocostal dysostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Steinfeld syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant late onset Parkinson disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant beta-thalassaemia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypoplastic tibia and postaxial polydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple osteochondroma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial non-autoimmune autosomal dominant hyperthyroidism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Roch Leri mesosomatous lipomatosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary keratoacanthoma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary phaeochromocytoma and paraganglioma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary diffuse carcinoma of stomach Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Proteus like syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hyperinsulinism due to SUR1 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcornea with glaucoma and absent frontal sinus syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sellars Beighton syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to glucokinase deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Punctate palmoplantar keratoderma type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial digital arthropathy and brachydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign adult familial myoclonic epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary hypotrichosis simplex of scalp 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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