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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1169 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
8q24.3 microdeletion syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
FTH1-related iron overload Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chondromalacia of patella (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Primary failure of tooth eruption (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated osteopoikilosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign familial neonatal-infantile seizures (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Osteofibrous dysplasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
14q32 duplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Prothrombin G20210A mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Otodental syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Benign familial infantile epilepsy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sorsby pseudoinflammatory fundus dystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hyperaldosteronism type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary distal onycholysis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated focal non-epidermolytic palmoplantar keratoderma (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial gigantiform cementoma of jaw (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Birt Hogg Dubé syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Leri-Weill dyschondrosteosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Nievergelt's syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neuroferritinopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant osteopetrosis type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hecht syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Long QT syndrome type 9 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Long QT syndrome type 11 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Malignant hyperpyrexia due to anesthetic Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multinodular goiter syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 46 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 45 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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