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783722008: Myopathy and diabetes mellitus (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3759938019 Myopathy and diabetes mellitus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759940012 Myopathy and diabetes mellitus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759939010 A rare genetic mitochondrial DNA-related mitochondrial myopathy disorder with characteristics of slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. The phenotype is caused by mutation in the mitochondrially-encoded tRNA-glu gene (MTTE). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myopathy and diabetes mellitus (disorder) Is a Mitochondrial myopathy true Inferred relationship Some
Myopathy and diabetes mellitus (disorder) Is a Diabetes mellitus associated with genetic syndrome true Inferred relationship Some
Myopathy and diabetes mellitus (disorder) Is a Genetic disease true Inferred relationship Some
Myopathy and diabetes mellitus (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 2
Myopathy and diabetes mellitus (disorder) Associated with Genetic disease true Inferred relationship Some 3
Myopathy and diabetes mellitus (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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