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732245008: myopathie mitochondriale pure (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1012821000172113 myopathie mitochondriale pure fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3464493014 Pure mitochondrial myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464494015 Pure mitochondrial myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762491000241116 myopathie mitochondriale pure (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3464495019 A rare mitochondrial disease with characteristics of exclusive skeletal muscle involvement without clinical evidence of other organ involvement. Disease manifestations are progressive limb weakness, proximal limb muscle atrophy and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia and diminished deep tendon reflexes. 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
myopathie mitochondriale pure est un(e) (attribut) Mitochondrial myopathy true Inferred relationship Some
myopathie mitochondriale pure est un(e) (attribut) Congenital disease true Inferred relationship Some
myopathie mitochondriale pure survenue (attribut) congénital true Inferred relationship Some 1
myopathie mitochondriale pure localisation d'une constatation (attribut) structure de muscle squelettique 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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