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Toms River-hemoglobinopathie (aandoening)
Toms River-hemoglobinopathie
hemoglobinopathie van Toms River
Hemoglobinopathy Toms River
Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
A rare genetic hemoglobinopathy disorder due to a defect in the gama subunit of the fetal hemoglobin and characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Can be caused by heterozygous mutation in the HBG2 gene on chromosome 11p15.5.
Id782880001
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD58.2
TermOverige hemoglobinopathie├źn
SNOMED CT to Orphanet simple map280615
SNOMED CT to ICD-10 extended map
TargetD58.2
RuleTRUE
AdviceALWAYS D58.2
CorrelationSNOMED CT source code to target map code correlation not specified