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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
48697013 Disorder of porphyrin metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759949018 Disorder of porphyrin metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1216293013 Disorder of porphyrin and haem metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1217792011 Disorder of porphyrin and heme metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
69031000077115 trouble du métabolisme des porphyrines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

94 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 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 Is a True Disorder of porphyrin metabolism Inferred relationship Some
Porphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Pseudoporphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
Porphyria caused by toxic effect of substance (disorder) 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
Disorder of bilirubin metabolism and excretion 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
Hereditary sideroblastic anemia 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 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
FH: Porphyria 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
Polyneuropathy in porphyria 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
FH: Porphyria Associated finding True Disorder of porphyrin metabolism Inferred relationship Some 1
FH: Porphyria Associated finding False Disorder of porphyrin metabolism Inferred relationship Some 1
Neonatal jaundice with porphyria Is a False Disorder of porphyrin metabolism Inferred relationship Some
A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly. Is a True Disorder of porphyrin metabolism Inferred relationship Some

This concept is not in any reference sets

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