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 |
| 3434316014 | Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434317017 | Hereditary hypotrichosis with recurrent skin vesicles syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434318010 | Hypotrichosis and recurrent skin vesicles | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3434319019 | A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Evidence suggests this syndrome is caused by homozygous mutation in the desmocollin-3 gene on chromosome 18q12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | est un(e) (attribut) | Congenital hypotrichia (disorder) | true | Inferred relationship | Some | ||
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | est un(e) (attribut) | Skin lesion | true | Inferred relationship | Some | ||
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | morphologie associée (attribut) | Lesion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | morphologie associée (attribut) | Congenital hypoplasia | false | Inferred relationship | Some | 3 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR