860859009: erytropoëtische protoporfyrie door deficiëntie van ferrochelatase (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Autosomal hereditary disorder\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Inborn error of metabolism\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Metabolic disease\Enzymopathy\Ferrochelatase deficiency\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Metabolic disease\Disorder of porphyrin metabolism\Porphyria (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Metabolic disease\Disorder of porphyrin metabolism\Inherited disorder of porphyrin metabolism (disorder)\Congenital porphyria\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)
• \Metabolic disease\Disorder of porphyrin metabolism\Ferrochelatase deficiency\Erythropoietic protoporphyria\Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3944367018	Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3944368011	Erythropoietic protoporphyria due to ferrochelatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10951491000146116	erytropoëtische protoporfyrie door deficiëntie van ferrochelatase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10951501000146114	erytropoëtische protoporfyrie door deficiëntie van ferrochelatase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11152591000146117	EPP door ferrochelatasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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