deficiëntie van leukocytenadhesie
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deficiëntie van leukocytenadhesie type 3 (aandoening)
deficiëntie van leukocytenadhesie type 3
LAD-3
LAD-III
leukocytenadhesiedeficiëntie type 3
Leukocyte adhesion deficiency type III
Leukocyte adhesion deficiency type 3
LAD-III - leukocyte adhesion deficiency type III
Leukocyte adhesion deficiency-1 variant
LAD-1 (leukocyte adhesion deficiency-1) variant
A form of leukocyte adhesion deficiency characterized by both severe bacterial infections and a severe bleeding disorder. The disease is extremely rare. Caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in hematopoietic cells. The FERMT3 mutations lead to an activation defect of all beta-integrins. Transmission is autosomal recessive.
Id1269277004
StatusPrimitive
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified