Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5348984017 | Maculopapular cutaneous mastocytosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5348985016 | Maculopapular cutaneous mastocytosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5348986015 | A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5348987012 | A form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the pediatric population and the etiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Maculopapular cutaneous mastocytosis (disorder) | Is a | Cutaneous mastocytosis (disorder) | true | Inferred relationship | Some | ||
| Maculopapular cutaneous mastocytosis (disorder) | Clinical course | Chronic | true | Inferred relationship | Some | 3 | |
| Maculopapular cutaneous mastocytosis (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 4 | |
| Maculopapular cutaneous mastocytosis (disorder) | Finding site | Mast cell | true | Inferred relationship | Some | 1 | |
| Maculopapular cutaneous mastocytosis (disorder) | Associated morphology | Mast cell abnormality (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Maculopapular cutaneous mastocytosis (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Maculopapular cutaneous mastocytosis (disorder) | Associated morphology | Cutaneous mastocytosis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Maculopapular cutaneous mastocytosis (disorder) | Is a | Papule of skin | true | Inferred relationship | Some | ||
| Maculopapular cutaneous mastocytosis (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 5 | |
| Maculopapular cutaneous mastocytosis (disorder) | Associated morphology | Maculopapule | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Telangiectasia macularis eruptiva perstans | Is a | True | Maculopapular cutaneous mastocytosis (disorder) | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR