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 |
| 5400884015 | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400885019 | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterised by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. 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 | Congenital muscular dystrophy | 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 | Developmental anomaly | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR