congenitale afwijking van binnenoor
congenitale afwijking van oor met gehoorverlies
congenitale doofheid
congenitale neutropenie
gehoorverlies bij syndroom
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syndroom van neutropenie, monocytopenie en doofheid (aandoening)
syndroom van neutropenie, monocytopenie en doofheid
syndroom van neutropenie, monocytopenie en gehoorverlies
Neutropenia, monocytopenia, deafness syndrome
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
Id725137007
StatusPrimitive
Has interpretationonder referentiebereik
Interpretsbepalen van neutrofielen
Associated morphologymorfologische afwijking
Finding sitestructuur van binnenoor
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD82.8
TermImmunodeficiëntie samengaand met andere gespecificeerde belangrijke defecten
TargetD70
TermAgranulocytose
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
SNOMED CT to Orphanet simple map2690
SNOMED CT to ICD-10 extended map
TargetD82.8
RuleTRUE
AdviceALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD70
RuleTRUE
AdviceALWAYS D70
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified