360369003: Holocarboxylase synthase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency
• \Congenital disease\Inborn error of metabolism\Multiple carboxylase deficiency\Holocarboxylase synthase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3957559014	Neonatal multiple carboxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3957560016	Early-onset multiple carboxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
476093013	Holocarboxylase synthase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
740045012	Holocarboxylase synthase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	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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