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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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) | survenue (attribut) | congénital | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 2 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 2 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | morphologie associée (attribut) | modification de la croissance | false | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 2 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | morphologie associée (attribut) | modification de la croissance | true | Inferred relationship | Some | 1 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital hypertrichosis (disorder) | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | ||
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 4 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 4 | |
Congenital cataract with hypertrichosis and intellectual disability 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