Hereditary stomatocytosis

Preferred Label : Hereditary stomatocytosis;

ICD-11 definition : This describes a number of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell 'leaks' sodium and potassium ions.;

Details

Origin ID

2067120097;

UMLS CUI

C1262483;

Currated CISMeF NLP mapping
- Hereditary stomatocytosis [ORDO Disease]
- Hereditary stomatocytosis (disorder) [SNOMED CT concept]
- hereditary stomatocytosis [SNOMED Notion]
- hereditary stomatocytosis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary stomatocytosis [MedDRA Preferred Term]
- Hereditary stomatocytosis [ORDO Disease]
- Hereditary stomatocytosis (disorder) [SNOMED CT concept]
- hereditary stomatocytosis [Disease (Nov.)]
- hereditary stomatocytosis [SNOMED Notion]
Validated automatic mappings to NTBT
- Hereditary stomatocytosis [MedDRA Preferred Term]
- Stomatocytosis [PASCAL descriptor]
- Stomatocytosis [HPO term]
- Stomatocytosis (disorder) [SNOMED CT concept]
- stomatocytosis, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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