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

Status: current, Primitive. 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	Active	Case sensitive	SNOMED CT core
4964811017	Multiple mitochondrial dysfunctions syndrome type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
4964812012	Multiple mitochondrial dysfunctions syndrome type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4964825016	NFU1 (NFU1 iron-sulfur cluster scaffold) deficiency	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start