Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302588018 | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3303035013 | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302594014 | This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302595010 | This syndrome is characterised by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 2 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | maladie chronique de l'appareil génito-urinaire | true | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | survenue (attribut) | Infancy (qualifier value) | true | Inferred relationship | Some | 4 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 4 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | hypogonadisme | true | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital muscular dystrophy | false | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | est un(e) (attribut) | Infantile cataract (disorder) | true | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | ||
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | false | Inferred relationship | Some | 4 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | false | Inferred relationship | Some | 5 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 6 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 6 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 4 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets