1208485009: Multiple mitochondrial dysfunctions syndrome type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 1
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 1
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 1
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\Disorder of mitochondrial respiratory chain complexes (disorder)\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 1

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4964809014	MMDS1 - multiple mitochondrial dysfunctions syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964811017	Multiple mitochondrial dysfunctions syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964812012	Multiple mitochondrial dysfunctions syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964825016	NFU1 (NFU1 iron-sulfur cluster scaffold) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399834016	A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399835015	A rare mitochondrial disease characterised by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnoea and bradycardia, respiratory failure, hyperglycinaemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leucoencephalopathy involving variable regions. The disease is typically fatal in early infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964809014	MMDS1 - multiple mitochondrial dysfunctions syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964811017	Multiple mitochondrial dysfunctions syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964812012	Multiple mitochondrial dysfunctions syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964825016	NFU1 (NFU1 iron-sulfur cluster scaffold) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964814013	A rare mitochondrial disease with characteristics of failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnoea and bradycardia, respiratory failure, hyperglycinaemia and lactic acidosis. Hypertrophic or dilated cardiomyopathy has also been reported. Brain imaging may show leucoencephalopathy involving variable regions. The disease is typically fatal in early infancy. Caused by homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964815014	A rare mitochondrial disease with characteristics of failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia and lactic acidosis. Hypertrophic or dilated cardiomyopathy has also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy. Caused by homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399834016	A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399835015	A rare mitochondrial disease characterised by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnoea and bradycardia, respiratory failure, hyperglycinaemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leucoencephalopathy involving variable regions. The disease is typically fatal in early infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3443461001000115	Mitochondriales Dysfunktions-Syndrom, multiples, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3443461001000115	Mitochondriales Dysfunktions-Syndrom, multiples, Typ 1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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