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syndroom van letale hemolytische anemie en genitale anomalieën (aandoening)
syndroom van letale hemolytische anemie en genitale anomalieën
syndroom van Waters-West
Waters-West-syndroom
Lethal hemolytic anemia and genital anomaly syndrome
Waters West syndrome
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.
Id719402008
StatusPrimitive
Finding siteerytrocyt
Has interpretationaanwezig
Interpretshemolyse
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD58.8
TermOverige gespecificeerde hereditaire hemolytische anemieën
SNOMED CT to Orphanet simple map1046
SNOMED CT to ICD-10 extended map
TargetD58.8
RuleTRUE
AdviceALWAYS D58.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified