FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server  |   User: [n/a]

64081000: Porphobilinogen synthase deficiency (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 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
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

Back to Start