722212004: encéphalomyopathie mitochondriale sévère liée à l'X (trouble)

• 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\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \affection de la tête\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\trouble métabolique\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\myopathie d'origine métabolique (trouble)\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331169018	Severe X-linked mitochondrial encephalomyopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331170017	Severe X-linked mitochondrial encephalomyopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331171018	Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331172013	Mitochondrial encephalomyopathy due to COXPD6 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
758381000241117	encéphalomyopathie mitochondriale sévère liée à l'X (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
871421000172112	encéphalomyopathie mitochondriale due à COXPD6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
940371000172117	encéphalomyopathie mitochondriale sévère liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3331174014	An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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