protoporphyria, erythropoietic

Preferred Label : protoporphyria, erythropoietic;

MeSH definition : An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.;

MeSH synonym : protoporphyrias, erythropoietic; erythropoietic protoporphyrias; erythropoietic protoporphyria; erythrohepatic protoporphyria;

Related MeSH term : ferrochelatase deficiency; Deficiencies, Ferrochelatase; Deficiency, Ferrochelatase; Ferrochelatase Deficiencies; Heme Synthetase Deficiency; Deficiencies, Heme Synthetase; Deficiency, Heme Synthetase; Heme Synthetase Deficiencies; Synthetase Deficiencies, Heme; Synthetase Deficiency, Heme;

MeSH annotation : do not confuse with PORPHYRIA, ERYTHROPOIETIC;

Wikipedia link : https://en.wikipedia.org/wiki/Erythrohepatic protoporphyria;

Details

Origin ID

D046351;

UMLS CUI

C0162568;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Ferrochelatase deficiency (disorder) [SNOMED CT concept]
- Personal Protective Equipment [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Erythropoietic Protoporphyria [NCIt concept]
- Erythropoietic protoporphyria [PASCAL descriptor]
- Erythropoietic protoporphyria [ICD-11 More detail]
- Erythropoietic protoporphyria [MedDRA LLT]
- Erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category (who)]
- Protoporphyria, erythropoietic [OMIM phenotypic series]
- Protoporphyria, erythropoietic, 1 [OMIM Phenotype]
- erythropoietic protoporphyria [DO Concept]
- erythropoietic protoporphyria [Disease (Nov.)]
- erythropoietic protoporphyria [SNOMED Notion]
DO Cross reference
- erythropoietic protoporphyria [DO Concept]
Has phenotype(s) (HPO)
- Mild hypertriglyceridemia [HPO term]
Manual NTBT mappings (CISMeF)
- Constitutional sideroblastic anemia [ORDO Disease]
- Rare constitutional hemolytic anemia [ORDO Disease]
MeSH Descriptor(s) used for indexing
- ferrochelatase [MeSH Descriptor]
Ne pas confondre avec
- porphyrias, hepatic [MeSH Descriptor]
ORDO relation(s)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
Record concept(s)
- ferrochelatase deficiency [MeSH concept]
- protoporphyria, erythropoietic [MeSH concept]
Related MeSH Supplementary Concept(s)
- protoporphyria, erythropoietic, X-Linked dominant [MeSH Supplementary Concept]
See also
- ferrochelatase [MeSH Descriptor]
See also (suggested by CISMeF)
- afamelanotide [MeSH Supplementary Concept]
- porphyrias, hepatic [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
- Erythropoietic Protoporphyria [NCIt concept]
- Erythropoietic protoporphyria [MedDRA LLT]
- Erythropoietic protoporphyria [PASCAL descriptor]
- Erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- Protoporphyria, erythropoietic, 1 [OMIM Phenotype]
- erythropoietic protoporphyria [DO Concept]
- erythropoietic protoporphyria [Disease (Nov.)]
- erythropoietic protoporphyria [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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