|||||||
syndroom van agenesie van corpus callosum en afwijkende geslachtsorganen (aandoening)
syndroom van agenesie van corpus callosum en afwijkende geslachtsorganen
syndroom van agenesie van corpus callosum en genitale afwijkingen
syndroom van Proud-Levine-Carpenter
syndroom van agenesie van corpus callosum en afwijkende genitaliƫn
syndroom van Proud
Agenesis of corpus callosum and abnormal genitalia syndrome
Microcephaly, corpus callosum agenesis, abnormal genitalia syndrome
Proud Levine Carpenter syndrome
Corpus callosum agenesis, abnormal genitalia syndrome
Proud syndrome
A rare genetic developmental defect during embryogenesis syndrome with characteristics of agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophrys) and optic atrophy have been observed. The disease is caused by mutation in the ARX gene.
Id763797003
StatusPrimitive
Associated morphologyagenesie
Finding sitegeheel corpus callosum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified