| congenitaal syndroom van labioscrotale agenesie, malformatie van cerebellum, corneadystrofie en faciale dysmorfie (aandoening) | | congenitaal syndroom van labioscrotale agenesie, malformatie van cerebellum, corneadystrofie en faciale dysmorfie | | aangeboren syndroom van labioscrotale agenesie, cerebellaire malformatie, corneadystrofie en faciale dysmorfie
| | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons. |
| | Id | 1172594000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 495875 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
