FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

11164009: Autosomal dominant hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
195344010 Autosomal dominant hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2618831016 AD - Autosomal dominant en Synonym Active Entire term case sensitive SNOMED CT core module

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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
8q24.3 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Duane retraction syndrome with congenital deafness Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ferritin heavy chain 1-related iron overload Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial chondromalacia of patella Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Primary failure of tooth eruption Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Isolated osteopoikilosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Benign familial neonatal-infantile seizures Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant generalized dystrophic epidermolysis bullosa Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Osteofibrous dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
14q32 duplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Prothrombin G20210A mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Otodental syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Benign familial infantile epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Sorsby pseudoinflammatory fundus dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial hyperaldosteronism type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary distal onycholysis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Diaphyseal medullary stenosis with bone malignancy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Isolated focal non-epidermolytic palmoplantar keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial gigantiform cementoma of jaw Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Birt Hogg Dubé syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier

Start Previous Page 11 of 11

This concept is not in any reference sets

Back to Start