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 |
5402577010 | Short stature-webbed neck-heart disease syndrome is characterized by 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 |
5402578017 | Short stature-webbed neck-heart disease syndrome is characterised by 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 |
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 |
7603521000241116 | syndrome d'Al Gazali-Aziz-Salem | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
7603531000241119 | syndrome de petite taille, pterygium colli et cardiopathie congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3421171001000115 | Kleinwuchs - Pterygium colli - Kardiopathie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Neck webbing (disorder) | true | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | retard mental | false | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 3 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Finding site | Heart structure | false | Inferred relationship | Some | 3 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Associated morphology | Congenital webbing | false | Inferred relationship | Some | 4 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Finding site | Skin structure of neck (body structure) | false | Inferred relationship | Some | 4 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 5 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Finding site | Face structure | false | Inferred relationship | Some | 5 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Associated morphology | Congenital webbing | true | Inferred relationship | Some | 3 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Finding site | Skin structure of neck (body structure) | true | Inferred relationship | Some | 3 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Intellectual disability | false | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Finding site | Heart structure | true | Inferred relationship | Some | 2 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Short stature-webbed neck-heart disease syndrome is characterized by 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. | Is a | Genetic intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)