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syndroom van pancytopenie met ontwikkelingsachterstand (aandoening)
syndroom van pancytopenie met ontwikkelingsachterstand
Pancytopenia with developmental delay syndrome
Trilineage bone marrow failure with developmental delay syndrome
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22.
Id774071007
StatusPrimitive
Associated morphologyaplasia
Finding sitestructuur van beenmerg
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsPlatelet count
Pathological processafwijkend immuunproces
Has interpretationafwijkend
Interpretshemostase
referentieset met complexe 'mapping' naar ICD-10
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified