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51022005: Erythropoietic protoporphyria (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
85017013 Erythropoietic protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
85019011 Erythrohepatic protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
85020017 Heme synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
85021018 Magnus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
495877016 Protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495879018 Haem synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788876017 Erythropoietic protoporphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5244046017 EPP - erythropoietic protoporphyria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
50003211000188111 protoporphyrie érythropoïétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
50003241000188110 protoporphyrie érythropoïétique autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452061001000117 Protoporphyrie, erythropoetische, autosomale Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Erythropoietic protoporphyria Is a Ferrochelatase deficiency true Inferred relationship Some
Erythropoietic protoporphyria Is a Porphyria false Inferred relationship Some
Erythropoietic protoporphyria Is a Autosomal hereditary disorder true Inferred relationship Some
Erythropoietic protoporphyria Finding site Body system structure false Inferred relationship Some
Erythropoietic protoporphyria Occurrence Congenital true Inferred relationship Some 1
Erythropoietic protoporphyria Is a Inborn error of metabolism true Inferred relationship Some
Erythropoietic protoporphyria Is a Congenital porphyria true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Homozygous erythropoietic protoporphyria Is a True Erythropoietic protoporphyria Inferred relationship Some
Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder) Is a True Erythropoietic protoporphyria Inferred relationship Some
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 Is a True Erythropoietic protoporphyria Inferred relationship Some
A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. Is a True Erythropoietic protoporphyria Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

US English

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