860859009: Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)

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

Status: current, Defined. 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	Case insensitive	SNOMED CT core
3944368011	Erythropoietic protoporphyria due to ferrochelatase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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