Amegakaryocytic thrombocytopenia
Autosomal recessive hereditary disorder
Congenital thrombocytopenia
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Congenital amegakaryocytic thrombocytopenia (disorder)
Congenital amegakaryocytic thrombocytopenia
A rare inherited bone marrow failure syndrome with manifestation of 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. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive.
congenitale amegakaryocytaire trombocytopenie
aangeboren amegakaryocytaire trombopenie
Id716336002
StatusPrimitive
OccurrenceCongenital
Has interpretationBelow reference range
InterpretsPlatelet count
Has interpretationAbnormal
InterpretsHemostatic function
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0
CorrelationSNOMED CT source code to target map code correlation not specified