764860006: 3-methylglutaconic aciduria type 7 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-methylglutaconic aciduria type 7
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\3-Methylglutaconic aciduria\3-methylglutaconic aciduria type 7

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655424014	MGA7 - 3-methylglutaconic aciduria type 7	en	Synonym	Active	Case sensitive	SNOMED CT core
3655425010	3-methylglutaconic aciduria type VII	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3655426011	3-methylglutaconic aciduria type 7 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655427019	3-methylglutaconic aciduria type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3655428012	3-methylglutaconic aciduria, cataract, neurologic involvement, neutropenia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3655429016	CLBP (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3655430014	A rare disorder with characteristics of neurological problems and neutropenia. Onset of symptoms is in early childhood and severity varies widely among affected individuals. In the most severely affected individuals, features are apparent in infancy and sometimes at birth. Associated with congenital cataracts or cataracts in infancy. The disease is caused by mutations in the CLPB gene which is likely to reduce or eliminate the amount of functional CLPB protein. The severity of the disease may be related to the amount of functional protein that remains. Inherited in an autosomal recessive pattern.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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