Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3315429012 | Sparse hair with short stature and skin anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3315430019 | Sparse hair with short stature and skin anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3315431015 | This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 3 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 1 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 2 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 1 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | morphologie associée (attribut) | dysplasie | false | Inferred relationship | Some | 2 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia | false | Inferred relationship | Some | ||
| Sparse hair with short stature and skin anomaly syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of hair | false | Inferred relationship | Some | ||
| Sparse hair with short stature and skin anomaly syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | false | Inferred relationship | Some | ||
| Sparse hair with short stature and skin anomaly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Sparse hair with short stature and skin anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 4 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 3 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
| Sparse hair with short stature and skin anomaly syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR