autosomaal recessieve hereditaire aandoening
hemoglobine S-sikkelcelziekte
hereditaire persistentie van foetaal hemoglobine
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syndroom van hereditaire persistentie van foetaal hemoglobine met sikkelcelziekte (aandoening)
syndroom van hereditaire persistentie van foetaal hemoglobine met sikkelcelziekte
syndroom van HPFH met sikkelcelziekte
syndroom van hereditaire persistentie van HbF met sikkelcelziekte
syndroom van erfelijke persistentie van foetaal hemoglobine met sikkelcelziekte
Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome
A rare genetic hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.
Id783254003
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD56.4
TermHereditaire persistentie van foetale hemoglobine [HPFH]
TargetD57.2
TermDubbel-heterozygote sikkelcelaandoeningen
SNOMED CT to Orphanet simple map251380
SNOMED CT to ICD-10 extended map
TargetD56.4
RuleTRUE
AdviceALWAYS D56.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD57.2
RuleTRUE
AdviceALWAYS D57.2
CorrelationSNOMED CT source code to target map code correlation not specified