80887004: Inherited methylmalonic acidemia AND homocystinuria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited methylmalonic acidaemia AND homocystinuria
• \Metabolic disease\Hereditary metabolic disease\Inherited methylmalonic acidaemia AND homocystinuria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidaemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidaemia AND homocystinuria
• \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\Methylmalonic acidaemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidaemia AND homocystinuria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Homocystinuria\Inherited methylmalonic acidaemia AND homocystinuria
• \Metabolic disease\Organic acid metabolism disorder\Non-amino organic acidaemia AND/OR aciduria\Methylmalonic acidaemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidaemia AND homocystinuria
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Methylmalonic acidaemia\Adenosylcobalamin and methylcobalamin synthesis defect\Inherited methylmalonic acidaemia AND homocystinuria

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
134168018	Inherited methylmalonic acidemia AND homocystinuria	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
504532010	CblF - Cobalamin locus F variant	en	Synonym	Active	Case sensitive	SNOMED CT core
504533017	Cobalamin locus F variant	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
504534011	CblF methylmalonic acidemia and homocystinuria	en	Synonym	Active	Case sensitive	SNOMED CT core
504535012	Inherited methylmalonic acidaemia AND homocystinuria	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
504536013	CblF methylmalonic acidaemia and homocystinuria	en	Synonym	Active	Case sensitive	SNOMED CT core
822096011	Inherited methylmalonic acidemia AND homocystinuria (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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