Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3704790014 | Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3704791013 | Thumb deformity, alopecia, pigmentation anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4213655014 | Sparse hair, short stature, skin anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
6925131000146116 | syndroom van deformiteit van duim, alopecia en pigmentatie-anomalie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12021581000146115 | syndroom van deformiteit van digitus I, alopecia en pigmentatie-anomalie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12208571000146114 | syndroom van deformiteit van digitus I, alopecia en pigmentatie-anomalie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3704792018 | A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Is a | Genetic disorder of skin pigmentation (disorder) | false | Inferred relationship | Some | ||
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Is a | Hypoplasia of thumb | true | Inferred relationship | Some | ||
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Is a | Inherited cutaneous hyperpigmentation | true | Inferred relationship | Some | ||
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Finding site | Thumb structure | true | Inferred relationship | Some | 3 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 2 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets