Catalog
Constitutional neutropaenia with extra-haematopoietic manifestations
No MMS code
Link to WHO Definition
Constitutional neutropaenia with extra-haematopoietic manifestations – http://id.who.int/icd/entity/1051492133
This is a granulocyte disorder characterised by an abnormally low number of neutrophils. Neutrophils usually make up 50-70% of circulating white blood cells and serve as the primary defence against infections by destroying bacteria in the blood. This diagnosis is with extra-haematopoietic manifestations.
Parents
Children
- Poikiloderma with neutropaenia
- Cohen syndrome
- Onycho-tricho-dysplasia – neutropaenia syndrome
- Hermansky-Pudlak syndrome with neutropaenia
- Glycogen storage disease due to glucose-6-phosphate transport defect
- Shwachman-Diamond syndrome
- Barth syndrome
- Neutropaenia - monocytopaenia - deafness
- Primary immunodeficiency syndrome due to p14 deficiency