1208485009: Multiple mitochondrial dysfunctions syndrome type 1 (disorder)

• SNOMED CT Concept\Clinical 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\Multiple mitochondrial dysfunctions syndrome type 1
• \Autosomal hereditary disorder\Autosomal recessive hereditary 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 of mitochondrial respiratory chain complexes\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 1
• \Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Multiple mitochondrial dysfunctions syndrome\Multiple mitochondrial dysfunctions syndrome type 1

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4964809014	MMDS1 - multiple mitochondrial dysfunctions syndrome type 1	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4964811017	Multiple mitochondrial dysfunctions syndrome type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4964812012	Multiple mitochondrial dysfunctions syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4964825016	NFU1 (NFU1 iron-sulfur cluster scaffold) deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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