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milde vorm van syndroom van Chédiak-Higashi (aandoening)
milde vorm van syndroom van Chédiak-Higashi
milde vorm van syndroom van Chediak-Steinbrinck-Higashi
Attenuated Chédiak-Higashi syndrome
Atypical Chédiak-Higashi syndrome
A very rare and atypical form of Chédiak-Higashi syndrome, a genetic disorder with characteristics of partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Missense mutations in the LYST lysosomal gene (1q42.1-q42.2) appear to cause this form of Chédiak-Higashi syndrome. Inherited in an autosomal recessive manner.
Id720520009
StatusPrimitive
Pathological processafwijkend immuunproces
Has interpretationafwijkend
Interpretshemostase
referentieset met complexe 'mapping' naar ICD-10
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3
CorrelationSNOMED CT source code to target map code correlation not specified