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congenitale autosomaal recessieve trombocytopenie met kleine trombocyten (aandoening)
congenitale autosomaal recessieve trombocytopenie met kleine trombocyten
CARST
congenitale autosomaal recessieve trombocytopenie met kleine bloedplaatjes
Congenital autosomal recessive small-platelet thrombocytopenia
CARST - congenital autosomal recessive small-platelet thrombocytopenia
A rare isolated constitutional thrombocytopenia with characteristics of neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.
Id1208617001
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Has interpretationonder referentiebereik
InterpretsPlatelet count
SNOMED CT to Orphanet simple map566192
SNOMED CT to ICD-10 extended map
TargetD69.4
RuleTRUE
AdviceALWAYS D69.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified