Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3326201015 | Hypertrichosis acromegaloid facial features syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326202010 | Hypertrichosis coarse face syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326205012 | Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326206013 | Hypertrichosis and acromegaloid facial appearance syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326203017 | A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3326204011 | A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalised increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3886651000052115 | syndrom med hypertrikos och ansiktsutseende av akromegaloid typ | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Is a | Congenital hypertrichosis | true | Inferred relationship | Some | ||
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | ||
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 3 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 4 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Associated morphology | Growth alteration | false | Inferred relationship | Some | 3 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Associated morphology | Growth alteration | true | Inferred relationship | Some | 1 | |
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets