Cryohydrocytosis

Preferred Label : Cryohydrocytosis;

Symbol : CHC;

CISMeF acronym : CHC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stomatocytosis, cold-sensitive;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 4, anion exchanger, member 1 gene (SLC4A1, 109270.0033);

Laboratory abnormalities : Pseudohyperkalemia; Increased autohemolysis and increased osmotic fragility at 5 degrees compared to 37 degrees C;

Prefixed ID : #185020;

Details

Origin ID

185020;

UMLS CUI

C1861453;

Automatic exact mappings (from CISMeF team)
- CLTC wt Allele [NCIt concept]
- CLTCL1 wt Allele [NCIt concept]
- Carcinogenic Chlorinated Hydrocarbon [NCIt concept]
- Combined hepatocellular carcinoma and cholangiocarcinoma [ORDO Disease]
- Familial pseudohyperkalemia [ORDO Disease]
- Hepatocellular carcinoma [ORDO Disease]
- Hereditary cryohydrocytosis with normal stomatin [ORDO Disease]
- carcinoma, hepatocellular [MeSH Descriptor]
Currated CISMeF NLP mapping
- Pseudohyperkalemia Cardiff [MeSH concept]
- cryohydrocytosis [Disease (Nov.)]
- pseudohyperkalemia cardiff [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hemolytic anemia [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
- Stomatocytosis [HPO term]
ORDO concept(s)
- Hereditary cryohydrocytosis with normal stomatin [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohyperkalemia Cardiff [MeSH concept]
- cryohydrocytosis [Disease (Nov.)]
- pseudohyperkalemia cardiff [MeSH Supplementary Concept]

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