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 of mitochondrial respiratory chain complexes\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 1

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 1

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Multiple mitochondrial dysfunctions syndrome (disorder)\Multiple mitochondrial dysfunctions syndrome type 1

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Multiple mitochondrial dysfunctions syndrome (disorder)\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

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

13791561000172117 multipele-mitochondriale-disfuncties-syndroom type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13791571000172114 NFU1-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

14256251000172113 MMDS1 - multipele-mitochondriale-disfuncties-syndroom type 1 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple mitochondrial dysfunctions syndrome type 1	Is a	Multiple mitochondrial dysfunctions syndrome (disorder)	true	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 1	Occurrence	Congenital	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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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
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
13791561000172117	multipele-mitochondriale-disfuncties-syndroom type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13791571000172114	NFU1-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
14256251000172113	MMDS1 - multipele-mitochondriale-disfuncties-syndroom type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)