64081000: Porphobilinogen synthase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\Congenital porphyria\5-aminolevulinic acid dehydratase deficiency
• \Hereditary metabolic disease\Inborn error of metabolism\5-aminolevulinic acid dehydratase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\5-aminolevulinic acid dehydratase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism\Congenital porphyria\5-aminolevulinic acid dehydratase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\5-aminolevulinic acid dehydratase deficiency
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\5-aminolevulinic acid dehydratase deficiency
• \Metabolic disease\Disorder of porphyrin metabolism\Porphyria\Congenital porphyria\5-aminolevulinic acid dehydratase deficiency
• \Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism\Congenital porphyria\5-aminolevulinic acid dehydratase deficiency
• \Congenital disease\Congenital porphyria\5-aminolevulinic acid dehydratase deficiency
• \Congenital disease\Inborn error of metabolism\5-aminolevulinic acid dehydratase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
106510013	Porphobilinogen synthase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
106511012	ALA dehydratase deficiency porphyria	en	Synonym	Active	Case sensitive	SNOMED CT core
106512017	ALAD deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
106513010	ALADH deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
106514016	delta-Aminolevulinate dehydrase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
106515015	Hereditary delta-aminolevulinic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
106516019	delta-Aminolevulinic acid dehydratase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
1432591000168114	5-aminolevulinic acid dehydratase deficiency	en	Synonym	Active	Case insensitive	SNOMED Clinical Terms Australian extension
199221019	Acute hepatic porphyria	en	Synonym	Active	Case insensitive	SNOMED CT core
499752016	ALA - Aminolevulinic acid dehydratase deficiency porphyria	en	Synonym	Active	Case sensitive	SNOMED CT core
499753014	Delta-aminolevulinate dehydrase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
499754015	ALA - Aminolaevulinic acid dehydratase deficiency porphyria	en	Synonym	Active	Case sensitive	SNOMED CT core
499755019	Delta-aminolaevulinate dehydrase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
499756018	delta-Aminolaevulinate dehydrase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
499757010	delta-Aminolaevulinic acid dehydratase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
803435015	Porphobilinogen 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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