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64081000: Porphobilinogen synthase deficiency (disorder)

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

Descriptions:

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

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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