64081000: Porphobilinogen synthase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Porphobilinogen synthase deficiency
\Hereditary metabolic disease\Inborn error of metabolism\Porphobilinogen synthase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Porphobilinogen synthase deficiency

\Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Porphobilinogen synthase deficiency
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Porphobilinogen synthase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Porphobilinogen synthase deficiency
\Metabolic disease\Disorder of porphyrin metabolism\Porphyria (disorder)\Congenital porphyria\Porphobilinogen synthase deficiency
\Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Porphobilinogen synthase deficiency

\Congenital disease (disorder)\Congenital porphyria\Porphobilinogen synthase deficiency
\Congenital disease (disorder)\Inborn error of metabolism\Porphobilinogen synthase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Porphobilinogen synthase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Porphobilinogen synthase deficiency	Is a	Porphyria	false	Inferred relationship	Some
Porphobilinogen synthase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Porphobilinogen synthase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Porphobilinogen synthase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Porphobilinogen synthase deficiency	Is a	Disorder of porphyrin metabolism	false	Inferred relationship	Some
Porphobilinogen synthase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Porphobilinogen synthase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Porphobilinogen synthase deficiency	Is a	Congenital porphyria	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
106510013	Porphobilinogen synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
106511012	ALA dehydratase deficiency porphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
106512017	ALAD deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
106513010	ALADH deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
106514016	delta-Aminolevulinate dehydrase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
106515015	Hereditary delta-aminolevulinic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
106516019	delta-Aminolevulinic acid dehydratase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
199221019	Acute hepatic porphyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499752016	ALA - Aminolevulinic acid dehydratase deficiency porphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499753014	Delta-aminolevulinate dehydrase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499754015	ALA - Aminolaevulinic acid dehydratase deficiency porphyria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499755019	Delta-aminolaevulinate dehydrase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499756018	delta-Aminolaevulinate dehydrase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499757010	delta-Aminolaevulinic acid dehydratase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
803435015	Porphobilinogen synthase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5886581000172112	déficit en porphobilinogène synthase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4510321000172113	porfobilinogeensynthetasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4510331000172111	deficiëntie van porfobilinogeensynthase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)