774205007: Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (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)\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \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)\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \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)\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
• \Inherited metabolic disorder of nervous system\Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3728343010	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728344016	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728345015	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728346019	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anaemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728343010	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728344016	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728345015	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728346019	A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anaemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3395611001000117	Wachstums- und Entwicklungsverzögerung-Hypotonie-Sehbeeinträchtigung-Laktatazidose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
915641000172115	syndrome de retard de croissance et de développement-hypotonie-troubles visuels-acidose lactique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
915641000172115	syndrome de retard de croissance et de développement-hypotonie-troubles visuels-acidose lactique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395611001000117	Wachstums- und Entwicklungsverzögerung-Hypotonie-Sehbeeinträchtigung-Laktatazidose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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