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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
437381000241114 protoporphyrie érythropoïétique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
495877016 Protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495878014 EPP - Erythropoietic protoporphyria en Synonym (core metadata concept) Active Entire term case sensitive (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
50003211000188111 protoporphyrie érythropoïétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
50003241000188110 protoporphyrie érythropoïétique autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
788876017 Erythropoietic protoporphyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
85017013 Erythropoietic protoporphyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
85018015 EPP en Synonym (core metadata concept) Active Entire term case sensitive (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

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
protoporphyrie érythropoïétique (trouble) est un(e) (attribut) Ferrochelatase deficiency true Inferred relationship Some
protoporphyrie érythropoïétique (trouble) est un(e) (attribut) Porphyria false Inferred relationship Some
protoporphyrie érythropoïétique (trouble) est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
protoporphyrie érythropoïétique (trouble) est un(e) (attribut) Inborn error of metabolism true Inferred relationship Some
protoporphyrie érythropoïétique (trouble) est un(e) (attribut) Congenital porphyria true Inferred relationship Some
protoporphyrie érythropoïétique (trouble) localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
protoporphyrie érythropoïétique (trouble) survenue (attribut) congénital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder) est un(e) (attribut) True protoporphyrie érythropoïétique (trouble) Inferred relationship Some
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 est un(e) (attribut) True protoporphyrie érythropoïétique (trouble) Inferred relationship Some
X-linked dominant erythropoietic protoporphyria est un(e) (attribut) True protoporphyrie érythropoïétique (trouble) Inferred relationship Some
Homozygous erythropoietic protoporphyria est un(e) (attribut) True protoporphyrie érythropoïétique (trouble) Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

US English

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