Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323365015 | Al Gazali Aziz Salem syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323367011 | Short stature with webbed neck and congenital heart disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323368018 | Short stature with webbed neck and congenital heart disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323366019 | This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | localisation d'une constatation (attribut) | cœur | true | Inferred relationship | Some | 2 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Short stature with webbed neck and congenital heart disease syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | Neck webbing | true | Inferred relationship | Some | ||
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | maladie cardiaque congénitale | true | Inferred relationship | Some | ||
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Short stature with webbed neck and congenital heart disease syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | localisation d'une constatation (attribut) | cœur | false | Inferred relationship | Some | 3 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | morphologie associée (attribut) | Congenital webbing | false | Inferred relationship | Some | 4 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | localisation d'une constatation (attribut) | peau du cou | false | Inferred relationship | Some | 4 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 5 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | morphologie associée (attribut) | Congenital webbing | true | Inferred relationship | Some | 3 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | localisation d'une constatation (attribut) | peau du cou | true | Inferred relationship | Some | 3 | |
Short stature with webbed neck and congenital heart disease syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets