Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2

Preferred Label : Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2;

ICD-11 synonym : X-linked dominant protoporphyria; X-linked protoporphyria; XLP - [X-linked protoporphyria]; EPP due to gain of function of erythroid-specific aminolevulinic acid synthase 3; XLDPP - [X-linked dominant protoporphyria];

ICD-11 acronym : XLDPP; XLP;

Details

Origin ID

2041499466;

UMLS CUI

C2677889;

Automatic exact mappings (from CISMeF team)
- SH2 Domain Containing 1A Protein Measurement [NCIt concept]
- SH2 domain containing 1A [ORDO Gene]
- SH2D1A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 (disorder) [SNOMED CT concept]
- 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]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH Supplementary Concept]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH concept]
False automatic mappings
- Lymphoproliferative syndrome, X-linked, 1 [OMIM Phenotype]
- X-linked lymphoproliferative disease [ORDO Disease]
See also inter- (CISMeF)
- Autosomal erythropoietic protoporphyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH concept]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH Supplementary Concept]

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