Autosomal recessive hereditary disorder
Congenital neurological disorder
Developmental hereditary disorder
Gonadal dysgenesis
Hereditary disorder of nervous system
Mixed sensory-motor polyneuropathy
Reproductive system hereditary disorder
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46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)
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).
syndroom van 46,XY-gonadale dysgenesie en motorische en sensorische neuropathie
Id783091003
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteGonadal structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding sitePeripheral nerve structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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