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 |
3331755010 | Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331756011 | Congenital cataract with hypertrichosis and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331757019 | CAHMR syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331758012 | CAHMR (cataract, hypertrichosis, mental retardation) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331759016 | This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331760014 | This syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
10711041000172110 | syndrome CAHMR (cataract, hypertrichosis and mental retardation) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
10711051000172112 | syndrome de cataracte congénitale, hypertrichose et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5184881000172113 | syndroom van congenitaal cataract, hypertrichose en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5184891000172111 | CAHMR-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
5184901000172110 | syndroom van congenitaal cataract, hypertrichose en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5184911000172113 | syndroom van congenitaal cataract, hypertrichose en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | Congenital hypertrichosis | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | retard mental | false | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 4 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 4 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 2 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 2 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Associated morphology | Growth alteration | false | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 2 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Associated morphology | Growth alteration | true | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets