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763311001: Adrenomyodystrophy (disorder)


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


0 descendants.

Expanded Value Set


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

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