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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
Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance.
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