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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 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 Concept inactivation indicator reference set: Ambiguous
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)
792651000052111 brist på porfobilinogensyntas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)
4335241000052118 porfyri av brist på porfobilinogensyntas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
4335251000052115 ALAD-bristporfyri sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Acceptable (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 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

Reference Sets

Medical conditions, alert information reference set (foundation metadata concept)

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