protoporphyria, erythropoietic, X-Linked dominant

Preferred Label : protoporphyria, erythropoietic, X-Linked dominant;

MeSH note : mutation in ALAS2;

MeSH synonym : xldpt; erythrohepatic protoporphyria, X-Linked;

Details

Origin ID

C567464;

UMLS CUI

C2677889;

Currated CISMeF NLP mapping
- Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 [ICD-11 More detail]
- Protoporphyria, erythropoietic, X-linked [OMIM Phenotype]
- X-Linked Protoporphyria [NCIt concept]
- X-linked dominant erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- X-linked erythropoietic protoporphyria [ORDO Disease]
MeSH term(s) associated for indexing
- 5-aminolevulinate synthetase [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- protoporphyria, erythropoietic [MeSH Descriptor]
Record concept(s)
- protoporphyria, erythropoietic, X-Linked dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 [ICD-11 More detail]
- Protoporphyria, erythropoietic, X-linked [OMIM Phenotype]
- X-Linked Protoporphyria [NCIt concept]
- X-linked dominant erythropoietic protoporphyria (disorder) [SNOMED CT concept]
- X-linked erythropoietic protoporphyria [ORDO Disease]

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