amegakaryocytaire trombocytopenie
autosomaal recessieve hereditaire aandoening
congenitale trombocytopenie
|||
congenitale amegakaryocytaire trombocytopenie (aandoening)
congenitale amegakaryocytaire trombocytopenie
aangeboren amegakaryocytaire trombopenie
Congenital amegakaryocytic thrombocytopenia
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
Id716336002
StatusPrimitive
Occurrencecongenitaal
Has interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3319
SNOMED CT to ICD-10 extended map
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0
CorrelationSNOMED CT source code to target map code correlation not specified