1222644009: Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \maladie chronique de l'appareil locomoteur\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\trouble métabolique\Mitochondrial cytopathy\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\trouble métabolique\Chronic metabolic disorder\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\maladie chronique\Chronic metabolic disorder\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Autosomal dominant mitochondrial myopathy with exercise intolerance
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Autosomal dominant mitochondrial myopathy with exercise intolerance

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048276010	Autosomal dominant mitochondrial myopathy with exercise intolerance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048277018	Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048278011	A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterised by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidaemia and increased serum creatine kinase.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048279015	A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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