Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3640240015 | Familial progressive hyperpigmentation and hypopigmentation of skin | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3640241016 | Familial progressive hyper and hypopigmentation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3640242011 | Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657277015 | A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial progressive hyper and hypopigmentation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial progressive hyper and hypopigmentation | Is a | Congenital pigmentary skin anomalies | true | Inferred relationship | Some | ||
| Familial progressive hyper and hypopigmentation | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| Familial progressive hyper and hypopigmentation | Associated morphology | Pigment alteration | false | Inferred relationship | Some | 2 | |
| Familial progressive hyper and hypopigmentation | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Familial progressive hyper and hypopigmentation | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
| Familial progressive hyper and hypopigmentation | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Familial progressive hyper and hypopigmentation | Associated morphology | Pigment alteration | true | Inferred relationship | Some | 1 | |
| Familial progressive hyper and hypopigmentation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Familial progressive hyper and hypopigmentation | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 1 | |
| Familial progressive hyper and hypopigmentation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Familial progressive hyper and hypopigmentation | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Familial progressive hyper and hypopigmentation | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR