Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3638504019 | Adrenomyodystrophy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3638505018 | Adrenomyodystrophy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3638506017 | An extremely rare genetic endocrine disease with characteristics of primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Adrenomyodystrophy | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
Adrenomyodystrophy | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
Adrenomyodystrophy | Is a | Adrenal insufficiency | true | Inferred relationship | Some | ||
Adrenomyodystrophy | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Adrenomyodystrophy | Finding site | Adrenal cortex structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set