87694001: Pyruvate carboxylase deficiency (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\Inborn error of pyruvate metabolism\Pyruvate carboxylase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyruvate carboxylase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Pyruvate carboxylase deficiency
• \Metabolic disease\Enzymopathy\Pyruvate carboxylase deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Pyruvate carboxylase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1235265014	PC - Pyruvate carboxylase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
145395013	Pyruvate carboxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
145396014	PC deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
145397017	Ataxia with lactic acidosis II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2164189011	Deficiency of pyruvic carboxylase	en	Synonym	Active	Case insensitive	SNOMED CT core
2164190019	Deficiency of pyruvate carboxylase	en	Synonym	Active	Case insensitive	SNOMED CT core
830221017	Pyruvate carboxylase 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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