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 |
| 1009021000172112 | syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| 770291000241112 | syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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 |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | morphologie associée (attribut) | Hyperpigmentation (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | est un(e) (attribut) | Genetic disorder of skin pigmentation (disorder) | false | Inferred relationship | Some | ||
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | est un(e) (attribut) | Hypoplasia of thumb | true | Inferred relationship | Some | ||
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | est un(e) (attribut) | Inherited cutaneous hyperpigmentation | true | Inferred relationship | Some | ||
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 1 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | localisation d'une constatation (attribut) | pouce | true | Inferred relationship | Some | 3 | |
| syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR