46,XY gonadal dysgenesis - motor and sensory neuropathy

Preferred Label : 46,XY gonadal dysgenesis - motor and sensory neuropathy;

ICD-11 definition : This is any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. This diagnosis is with motor and sensory neuropathy.;

Details

Origin ID

542811422;

CISMeF manual mappings
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [ORDO Disease]
- 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy [MeSH Supplementary Concept]
- 46,Xy gonadal dysgenesis, partial, with minifascicular neuropathy [MeSH concept]
- 46,xy gonadal dysgenesis with minifascicular neuropathy [OMIM Phenotype]

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