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 |
| 3724864012 | SOFT syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724865013 | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724866014 | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724867017 | SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724868010 | A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'ongle (trouble) | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Congenital hypotrichia (disorder) | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | localisation d'une constatation (attribut) | Nail unit structure | true | Inferred relationship | Some | 2 | |
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Disorder of nail (disorder) | false | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR