Overhydrated hereditary stomatocytosis

Preferred Label : Overhydrated hereditary stomatocytosis;

Symbol : OHST;

CISMeF acronym : OHS; OHST;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Potassium-sodium disorder of erythrocyte; OHS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Rhesus blood group-associated glycoprotein gene (RHAG, 180297.0011);

Laboratory abnormalities : Hyperbilirubinemia;

Prefixed ID : #185000;

Détails

Origin ID

185000;

UMLS CUI

C1861455;

Automatic exact mappings (from CISMeF team)
- Obesity hypoventilation syndrome [ICD-11 Subcategory]
- Stomatocytosis [PASCAL descriptor]
- overhydrated hereditary stomatocytosis [DO Concept]
Currated CISMeF NLP mapping
- Overhydrated hereditary stomatocytosis [ICD-11 More detail]
- Overhydrated hereditary stomatocytosis [ORDO Disease]
- Overhydrated hereditary stomatocytosis (disorder) [SNOMED CT concept]
- stomatocytosis I [MeSH concept]
- stomatocytosis I [MeSH Supplementary Concept]
DO Cross reference
- overhydrated hereditary stomatocytosis [DO Concept]
False automatic mappings
- X-linked cutis laxa [ICD-11 More detail]
- hydroxide ion [MeSH concept]
- hydroxide ion [MeSH Supplementary Concept]
Genes related to phenotype
- Rhesus blood group-associated glycoprotein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Increased intracellular sodium [HPO term]
- Increased red cell osmotic fragility [HPO term]
- Jaundice [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
- Stomatocytosis [HPO term]
ORDO concept(s)
- Overhydrated hereditary stomatocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Overhydrated hereditary stomatocytosis [ORDO Disease]
- Overhydrated hereditary stomatocytosis [ICD-11 More detail]
- Overhydrated hereditary stomatocytosis (disorder) [SNOMED CT concept]
- stomatocytosis I [MeSH Supplementary Concept]
- stomatocytosis I [MeSH concept]

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

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