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763311001: Adrenomyodystrophy (disorder)


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


0 descendants.

Expanded Value Set


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)

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