chronische aandoening van immuunfunctie
gecombineerde immunodeficiëntie
hereditaire aandoening van immuunsysteem
syndroom van microcefalie, epileptische aanvallen, corticale blindheid en ontwikkelingsachterstand
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Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder)
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 deficiency
SCBMS (seizures, cortical blindness, microcephaly syndrome) with combined immunodeficiency due to DIAPH1 mutation
Id1354858008
StatusPrimitive
Clinical courseprogressief
Finding sitestructuur van visuele cortex
Pathological processafwijkend immuunproces
Has interpretationonder referentiebereik
Interpretshoofdomtrek
Finding sitestructuur van hoofd
Occurrencezuigelingenperiode
Pathological processproces van pathologische ontwikkeling
SNOMED CT to ICD-10 extended map
TargetQ02
RuleTRUE
AdviceALWAYS Q02 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH47.6
RuleTRUE
AdviceALWAYS H47.6
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF89
RuleTRUE
AdviceALWAYS F89
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8
CorrelationSNOMED CT source code to target map code correlation not specified