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syndroom van alfathalassemie en X-gebonden verstandelijke beperking (aandoening)
syndroom van alfathalassemie en X-gebonden verstandelijke beperking
ATR-X-syndroom
syndroom van alfathalassemie en X-gebonden mentale retardatie
alfathalassemie-X-gebonden intellectuele achterstand-syndroom
syndroom van alfathalassemie en X-gebonden verstandelijke handicap
syndroom van alfathalassemie en X-gebonden intellectuele achterstand
Alpha thalassemia X-linked intellectual disability syndrome
Alpha thalassaemia X-linked intellectual disability syndrome
Alpha thalassaemia X-linked intellectual deficit
Alpha thalassemia X-linked intellectual deficit
In males the syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. Female carriers are usually physically and intellectually normal. Language is usually very limited. Seizures occur in about one third of the cases. While many patients are affectionate with their caregivers, some exhibit autistic-like behavior. Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. This syndrome is X-linked recessive and results from mutations in the ATRX gene.
Id715342005
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD56.0
RuleTRUE
AdviceALWAYS D56.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ98.8
RuleTRUE
AdviceALWAYS Q98.8
CorrelationSNOMED CT source code to target map code correlation not specified