Red cell phospholipid defect with hemolysis

Preferred Label : Red cell phospholipid defect with hemolysis;

CISMeF acronym : HPCHA;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : HPCHA; High red cell phosphatidylcholine hemolytic anemia; Phosphatidylcholine red cell membrane disorder; Leaky red cell syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : %179700;

Details

Origin ID

179700;

UMLS CUI

C1867339;

Currated CISMeF NLP mapping
- red cell phospholipid defect with hemolysis [MeSH concept]
- red cell phospholipid defect with hemolysis [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperbilirubinemia [HPO term]
- Intermittent jaundice [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- red cell phospholipid defect with hemolysis [MeSH Supplementary Concept]
- red cell phospholipid defect with hemolysis [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients