FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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
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

Start Previous Page 6 of 11 Next End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start