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Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome
This syndrome has characteristics of prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.
syndroom van Mülleriaanse derivaten, lymfangiëctasie en polydactylie
Id721970009
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteKidney structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyLymphangiectasis
Finding siteStructure of lymphatic vessel
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologySupernumerary structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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