Autosomal recessive hereditary disorder
Constitutional aplastic anemia
Developmental delay
Developmental hereditary disorder
Hereditary white blood cell disorder
Inherited platelet disorder
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Pancytopenia with developmental delay syndrome (disorder)
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.
syndroom van pancytopenie met ontwikkelingsachterstand
Id774071007
StatusPrimitive
Has interpretationBelow reference range
InterpretsWhite blood cell count
Associated morphologyAplasia
Finding siteBone marrow structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsPlatelet count
Due toDecreased erythrocyte production
Has interpretationBelow reference range
InterpretsRed blood cell count
Has interpretationBelow reference range
InterpretsMeasurement of total hemoglobin concentration
Pathological processAbnormal immune process
Has interpretationAbnormal
InterpretsHemostatic function
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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