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syndroom van XY-gonadale dysgenesie en motorische en sensorische neuropathie (aandoening)
syndroom van XY-gonadale dysgenesie en motorische en sensorische neuropathie
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH).
Id783091003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van gonade
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified