Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3897143012 | Congenital generalized hypertrichosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3897144018 | Congenital generalised hypertrichosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3897145017 | Congenital generalized hypertrichosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5896841000241112 | hypertrichose congénitale généralisée | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital generalized hypertrichosis (disorder) | Is a | Lanugo | true | Inferred relationship | Some | ||
Congenital generalized hypertrichosis (disorder) | Is a | Congenital hypertrichosis | true | Inferred relationship | Some | ||
Congenital generalized hypertrichosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Congenital generalized hypertrichosis (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital generalized hypertrichosis (disorder) | Associated morphology | Growth alteration | true | Inferred relationship | Some | 1 | |
Congenital generalized hypertrichosis (disorder) | Finding site | Lanugo hair | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
X-linked congenital generalized hypertrichosis | Is a | True | Congenital generalized hypertrichosis (disorder) | Inferred relationship | Some | |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability and/or developmental delay, epilepsy, generalised hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia. | Is a | True | Congenital generalized hypertrichosis (disorder) | Inferred relationship | Some |
This concept is not in any reference sets