Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3424237012 | Hereditary hypotrichosis simplex (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424238019 | Hereditary hypotrichosis simplex | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424239010 | Hypotrichosis simplex | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3424240012 | Disorder with characteristics of reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Prevalence is unknown but numerous large pedigrees with several affected members have been described. Both men and women are equally affected. Hair loss is diffuse and progressive and usually begins during early childhood. Body hair may also be sparse with variable involvement of the eyebrows, eyelashes, and pubic and axillary hair. There are no anomalies of the skin, nails or teeth. A scalp-limited form has also been reported with mutations in the corneodesmosin (CDSN) gene. Both autosomal dominant and recessive modes of transmission have been reported for this disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hereditary hypotrichosis simplex (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
Hereditary hypotrichosis simplex (disorder) | Is a | Hypotrichosis | true | Inferred relationship | Some | ||
Hereditary hypotrichosis simplex (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hereditary hypotrichosis simplex (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | ||
Hereditary hypotrichosis simplex (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | ||
Hereditary hypotrichosis simplex (disorder) | Associated morphology | Growth alteration | true | Inferred relationship | Some | 1 | |
Hereditary hypotrichosis simplex (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Hereditary hypotrichosis simplex of scalp (disorder) | Is a | True | Hereditary hypotrichosis simplex (disorder) | Inferred relationship | Some |
This concept is not in any reference sets