Harderoporphyria

Preferred Label : Harderoporphyria;

ICD-11 definition : This rare erythropoietic variant form of hereditary coproporphyria is characterized by neonatal hyperbilirubinemia and hemolytic anemia, hepatosplenomegaly, and sometimes photosensitivity. Several families with harderoporphyria have been reported. Molecular analysis indicates that a coproporphyrinogen oxidase gene abnormality, K404E, was unique for this disease.;

Détails

Origin ID

1664486132;

UMLS CUI

C0342859;

Automatic exact mappings (from CISMeF team)
- Coproporphyria, hereditary [OMIM Phenotype]
Currated CISMeF NLP mapping
- Harderoporphyria [OMIM Phenotype]
- Homozygous hereditary coproporphyria (disorder) [SNOMED CT concept]
- harderoporphyria [MeSH concept]
- harderoporphyria [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Harderoporphyria [OMIM Phenotype]
- Homozygous hereditary coproporphyria (disorder) [SNOMED CT concept]
- harderoporphyria [MeSH concept]
- harderoporphyria [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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