Hereditary spherocytosis

Preferred Label : Hereditary spherocytosis;

ICD-11 definition : A haemolytic anaemia resulting from red blood cell membrane protein anomalies and is caused by a genetically inherited mutation leading to non-immune mediated haemolytic anaemia. This disease is characterised by production of red blood cells that are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. This difference in shape makes the red blood cells more prone to rupture. This disease may present with pallor, jaundice, enlarged spleen, fatigue, or shortness of breath. Confirmation is by identification of mutation through genetic testing.;

ICD-11 synonym : Acholuric (familial) jaundice; Minkowski-Chauffard disease; anaemia spherocytic; congenital spherocytic hemolytic anaemia; familial spherocytosis; Minkowski-Chauffard syndrome; congenital spherocytosis;

ICD-11 inclusion : acholuric icterus; congenital hemolytic jaundice; acholuric jaundice; hereditary spherocytic anaemia; congenital hemolytic icterus; spherocytosis; Congenital (spherocytic) haemolytic icterus; Acholuric (familial) jaundice;

Details

Origin ID

1305248013;

UMLS CUI

C0037889;

Automatic exact mappings (from CISMeF team)
- Spherocytic anemia [PASCAL descriptor]
- spherocytosis, type 1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- ANAEMIA SPHEROCYTIC [WHO-ART Preferred Term]
- Anaemia spherocytic [MedDRA LLT]
- Anemia spherocytic [MedDRA LLT]
- Hereditary Spherocytosis [NCIt concept]
- Hereditary spherocytosis [ICD-9 code]
- Hereditary spherocytosis [MedDRA Preferred Term]
- Hereditary spherocytosis [ORDO Disease]
- Hereditary spherocytosis [ICD-10 Sub-category]
- Hereditary spherocytosis [ICD-10 Sub-category (who)]
- Hereditary spherocytosis (disorder) [SNOMED CT concept]
- Minkowski-Chauffard syndrome [MedDRA LLT]
- Spherocytic anaemia [MedDRA Preferred Term]
- Spherocytic anemia [MedDRA LLT]
- hereditary spherocytosis [DO Concept]
- hereditary spherocytosis [Disease (Nov.)]
- hereditary spherocytosis, nos [SNOMED Notion]
- spherocytosis, hereditary [MeSH concept]
- spherocytosis, hereditary [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ANAEMIA SPHEROCYTIC [WHO-ART Preferred Term]
- Anaemia spherocytic [MedDRA LLT]
- Anemia spherocytic [MedDRA LLT]
- Hereditary Spherocytosis [NCIt concept]
- Hereditary spherocytosis [ICD-9 code]
- Hereditary spherocytosis [ICD-10 Sub-category]
- Hereditary spherocytosis [MedDRA Preferred Term]
- Hereditary spherocytosis [ORDO Disease]
- Hereditary spherocytosis (disorder) [SNOMED CT concept]
- Minkowski-Chauffard syndrome [MedDRA LLT]
- Spherocytic anaemia [MedDRA Preferred Term]
- Spherocytic anemia [MedDRA LLT]
- hereditary spherocytosis [DO Concept]
- hereditary spherocytosis [Disease (Nov.)]
- hereditary spherocytosis, nos [SNOMED Notion]
- spherocytosis, hereditary [MeSH Descriptor]
- spherocytosis, hereditary [MeSH concept]
Validated automatic mappings to BTNT
- anemia, hereditary spherocytic hemolytic [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients