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infantiele agranulocytose (aandoening)
infantiele agranulocytose
ernstige congenitale neutropenie type 3
ziekte van Kostmann
Kostmann-syndroom
Kostmann syndrome
Infantile genetic agranulocytosis
Infantile agranulocytosis
Severe congenital neutropenia type 3
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.
Id770942003
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD70
TermAgranulocytose
SNOMED CT to Orphanet simple map99749
SNOMED CT to ICD-10 extended map
TargetD70
RuleTRUE
AdviceALWAYS D70 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified