64081000: Porphobilinogen synthase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Porphobilinogen synthase deficiency

\Inborn error of metabolism\Porphobilinogen synthase deficiency

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

\trouble métabolique\Inborn error of metabolism\Porphobilinogen synthase deficiency
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Porphobilinogen synthase deficiency
\trouble métabolique\Disorder of porphyrin metabolism\Porphyria (disorder)\Congenital porphyria\Porphobilinogen synthase deficiency
\trouble métabolique\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Porphobilinogen synthase deficiency

\Congenital disease\Congenital porphyria\Porphobilinogen synthase deficiency
\Congenital disease\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	est un(e) (attribut)	Disorder of porphyrin metabolism	false	Inferred relationship	Some
Porphobilinogen synthase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Porphobilinogen synthase deficiency	est un(e) (attribut)	Porphyria	false	Inferred relationship	Some
Porphobilinogen synthase deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Porphobilinogen synthase deficiency	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Porphobilinogen synthase deficiency	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Porphobilinogen synthase deficiency	est un(e) (attribut)	Congenital porphyria	true	Inferred relationship	Some
Porphobilinogen synthase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Porphobilinogen synthase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1

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