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syndroom van ontwikkelingsachterstand, immunodeficiëntie, leukencefalopathie en hypohomocysteïnemie (aandoening)
syndroom van ontwikkelingsachterstand, immunodeficiëntie, leukencefalopathie en hypohomocysteïnemie
syndroom van ontwikkelingsachterstand, immuundeficiëntie, leuko-encefalopathie en hypohomocysteïnemie
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome
A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinemia. Additional clinical features may include heart defects.
Id1340174002
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
SNOMED CT to ICD-10 extended map
TargetE72.1
RuleTRUE
AdviceALWAYS E72.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified