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. |
| Id | 1269277004 | Status | Primitive |
SNOMED CT to Orphanet simple map | 99844 |
SNOMED CT to ICD-10 extended map | Target | D84.8 | Rule | TRUE | Advice | ALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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