Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3638504019 | Adrenomyodystrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638505018 | Adrenomyodystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403998014 | An extremely rare genetic endocrine disease characterized by 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403999018 | An extremely rare genetic endocrine disease characterised by 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3638504019 | Adrenomyodystrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638505018 | Adrenomyodystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403998014 | An extremely rare genetic endocrine disease characterized by 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403999018 | An extremely rare genetic endocrine disease characterised by 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425071001000119 | Adrenomyodystrophie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
932031000172118 | adrénomyodystrophie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
932031000172118 | adrénomyodystrophie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3425071001000119 | Adrenomyodystrophie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Adrenomyodystrophy (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Adrenomyodystrophy (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Adrenomyodystrophy (disorder) | Is a | Adrenal cortical hypofunction (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Adrenomyodystrophy (disorder) | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Adrenomyodystrophy (disorder) | Finding site | Adrenal cortex structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)