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29094004: Disorder of porphyrin metabolism (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
48697013 Disorder of porphyrin metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
759949018 Disorder of porphyrin metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1216293013 Disorder of porphyrin and haem metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
1217792011 Disorder of porphyrin and heme metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
1992751000005119 porfyrinstofskifteforstyrrelse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

92 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of porphyrin metabolism Is a Inborn error of metabolism (disorder) false Inferred relationship Some
Disorder of porphyrin metabolism Occurrence Congenital false Inferred relationship Some
Disorder of porphyrin metabolism Finding site Body system structure false Inferred relationship Some
Disorder of porphyrin metabolism Is a Metabolic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Protoporphyrinuria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Porphyruria (disorder) Is a True Disorder of porphyrin metabolism Inferred relationship Some
Porphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Pseudoporphyria (disorder) Is a True Disorder of porphyrin metabolism Inferred relationship Some
Porphyria due to toxic effect of substance Is a False Disorder of porphyrin metabolism Inferred relationship Some
Uroporphyrinogen decarboxylase deficiency Is a True Disorder of porphyrin metabolism Inferred relationship Some
Porphobilinogen deaminase deficiency Is a True Disorder of porphyrin metabolism Inferred relationship Some
Ferrochelatase deficiency Is a True Disorder of porphyrin metabolism Inferred relationship Some
Forstyrrelse af bilirubinstofskifte og -udskillelse Is a False Disorder of porphyrin metabolism Inferred relationship Some
Uroporphyrinuria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Coproporphyrinuria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Drug-induced porphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Secondary porphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Hepatic porphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
hereditær sideroblastanæmi Is a False Disorder of porphyrin metabolism Inferred relationship Some
Porphobilinogen synthase deficiency Is a False Disorder of porphyrin metabolism Inferred relationship Some
Erythropoietic porphyria (disorder) Is a False Disorder of porphyrin metabolism Inferred relationship Some
Hereditary coproporphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Chester-type porphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Congenital porphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Coproporphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Porphyria NOS Is a False Disorder of porphyrin metabolism Inferred relationship Some
Porphyrinopathy (disorder) Is a True Disorder of porphyrin metabolism Inferred relationship Some
Family history: Porphyria (situation) Associated finding False Disorder of porphyrin metabolism Inferred relationship Some 1
Inherited disorder of porphyrin metabolism (disorder) Is a True Disorder of porphyrin metabolism Inferred relationship Some
Hypertrichosis in porphyria (disorder) Associated etiologic finding False Disorder of porphyrin metabolism Inferred relationship Some
Hypertrichosis in porphyria (disorder) Due to True Disorder of porphyrin metabolism Inferred relationship Some 2
polyneuropati ved porfyri Associated with False Disorder of porphyrin metabolism Inferred relationship Some
Porphyria (disorder) Is a True Disorder of porphyrin metabolism Inferred relationship Some
Disorder of bilirubin metabolism Is a True Disorder of porphyrin metabolism Inferred relationship Some
Neonatal jaundice with porphyria Associated with False Disorder of porphyrin metabolism Inferred relationship Some 1
Family history: Porphyria (situation) Associated finding True Disorder of porphyrin metabolism Inferred relationship Some 1
Family history: Porphyria (situation) Associated finding False Disorder of porphyrin metabolism Inferred relationship Some 1

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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