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64081000: Porphobilinogen synthase deficiency (disorder)

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

Descriptions:

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
106515015 Hereditary delta-aminolevulinic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (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
499753014 Delta-aminolevulinate dehydrase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (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
803435015 Porphobilinogen synthase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5285655011 Porphyria due to delta-aminolevulinate dehydratase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5285656012 Porphyria of Doss en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
106510013 Porphobilinogen synthase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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 Only initial character case insensitive (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 Only initial character 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 Only initial character case insensitive (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 Only initial character case insensitive (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 Only initial character 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 Only initial character case insensitive (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 Only initial character case insensitive (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
5285655011 Porphyria due to delta-aminolevulinate dehydratase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5285656012 Porphyria of Doss en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3455411001000119 Porphyrie durch ALA-Dehydratase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4599671000241115 déficit en porphobilinogène synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4599671000241115 déficit en porphobilinogène synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3455411001000119 Porphyrie durch ALA-Dehydratase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Porphobilinogen synthase deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Is a Porphyria false Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Is a Enzymopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Porphobilinogen synthase deficiency (disorder) Is a Disorder of porphyrin metabolism false Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Porphobilinogen synthase deficiency (disorder) Is a Congenital porphyria true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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