Hereditary elliptocytosis

ICD-11 code : 3A10.2;

Preferred Label : Hereditary elliptocytosis;

ICD-11 definition : Hereditary elliptocytosis is a group of rare conditions caused by abnormalities in the red cell cytoskeleton and marked by the presence on blood smears of numerous elliptical red blood cells, called elliptocytes. Clinical presentations are highly heterogeneous ranging from asymptomatic forms to more severe forms associated with variable anemia, from moderate to severe and with pyropoikilocytosis including fragmented red cells, microelliptocytes and microspherocytes.;

ICD-11 synonym : congenital elliptocytosis; elliptocytosis; Hereditary elliptocytosis with infantile poikilocytosis; congenital ovalocytosis; hereditary ovalocytosis; oval erythrocytosis; ovalocytosis; HE - [hereditary elliptocytosis];

ICD-11 acronym : HE;

ICD-11 inclusion : elliptocytosis anaemia;

Details

Origin ID

679955609;

UMLS CUI

C0013902;

Automatic exact mappings (from CISMeF team)
- Cytohesin 1-interacting protein [OMIM gene]
Currated CISMeF NLP mapping
- Congenital elliptocytosis (disorder) [SNOMED CT concept]
- Elliptocytosis hereditary [MedDRA Preferred Term]
- Hereditary Elliptocytosis [NCIt concept]
- Hereditary elliptocytosis [MedDRA LLT]
- Hereditary elliptocytosis [ORDO Disease]
- Hereditary elliptocytosis [ICD-9 code]
- Hereditary elliptocytosis [ICD-10 Sub-category]
- Hereditary elliptocytosis [ICD-10 Sub-category (who)]
- Hereditary elliptocytosis (disorder) [SNOMED CT concept]
- elliptocytosis, hereditary [MeSH concept]
- elliptocytosis, hereditary [MeSH Descriptor]
- hereditary elliptocytosis [DO Concept]
- hereditary elliptocytosis, nos [SNOMED Notion]
False automatic mappings
- A/He Mouse [NCIt concept]
- Encephalopathy hepatic [MedDRA LLT]
- Helium [NCIt concept]
- hepatic encephalopathy [SNOMED Notion]
- hepatic encephalopathy [MeSH concept]
- hepatic encephalopathy [MeSH Descriptor]
- hydranencephaly [MeSH Descriptor]
- hydranencephaly [MeSH concept]
- hydranencephaly [SNOMED Notion]
ICD-10 Mapping
- Hereditary elliptocytosis [ICD-10 Sub-category]
See also inter- (CISMeF)
- Elliptocytosis (finding) [SNOMED CT concept]
- Hereditary elliptocytosis [PASCAL descriptor]
- Ovalocytosis [NCIt concept]
- Ovalocytosis [MedDRA LLT]
- Southeast Asian ovalocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital elliptocytosis (disorder) [SNOMED CT concept]
- Elliptocytosis hereditary [MedDRA Preferred Term]
- Hereditary Elliptocytosis [NCIt concept]
- Hereditary elliptocytosis [ICD-9 code]
- Hereditary elliptocytosis [ICD-10 Sub-category]
- Hereditary elliptocytosis [MedDRA LLT]
- Hereditary elliptocytosis [ORDO Disease]
- Hereditary elliptocytosis (disorder) [SNOMED CT concept]
- elliptocytosis, hereditary [MeSH Descriptor]
- elliptocytosis, hereditary [MeSH concept]
- hereditary elliptocytosis [DO Concept]
- hereditary elliptocytosis, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Elliptocytosis [HPO term]
- Elliptocytosis [MedDRA Preferred Term]
- Elliptocytosis [NCIt concept]
- Elliptocytosis NOS [MedDRA LLT]

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