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 |
| 6948221000146117 | syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6948231000146115 | syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6948241000146111 | congenitale spierdystrofie met infantiel cataract en hypogonadisme | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Hypogonadism | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | congenitale spierdystrofie | false | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | Infantile cataract (disorder) | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 4 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 4 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 5 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Associated morphology | cataract | false | Inferred relationship | Some | 6 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 6 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 4 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
| 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) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | Chronic disease of genitourinary system | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 4 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome | Is a | True | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Inferred relationship | Some | |
| Male congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Is a | True | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR