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720827002: syndrome de dysfonctionnements mitochondriaux multiples (trouble)


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
3322204013 Multiple mitochondrial dysfunctions syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322205014 Multiple mitochondrial dysfunctions syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322206010 MMDS - multiple mitochondrial dysfunctions syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
756581000241113 syndrome de dysfonctionnements mitochondriaux multiples (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
870161000172117 syndrome de dysfonctionnements mitochondriaux multiples fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3322207018 Syndrome caused by impairment of mitochondria. Whilst mitochondrial disorders may be caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. Symptoms begin in early life and affected individuals usually do not live past infancy. Symptoms include encephalopathy, hypotonia, seizures and psychomotor delay. Most affected babies have lactic acidosis that can be life threatening. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple mitochondrial dysfunctions syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome (disorder) est un(e) (attribut) Disorder of mitochondrial respiratory chain complexes true Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Multiple mitochondrial dysfunctions syndrome type 1 est un(e) (attribut) True Multiple mitochondrial dysfunctions syndrome (disorder) Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) est un(e) (attribut) True Multiple mitochondrial dysfunctions syndrome (disorder) Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 3 est un(e) (attribut) True Multiple mitochondrial dysfunctions syndrome (disorder) Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 4 est un(e) (attribut) True Multiple mitochondrial dysfunctions syndrome (disorder) Inferred relationship Some

This concept is not in any reference sets

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