||||||||||
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Id1237342004
StatusPrimitive
Has interpretationBelow reference range
InterpretsHead circumference
Associated morphologyMorphologically abnormal structure
Finding siteCerebrum
OccurrenceFetal period
Pathological processPathological developmental process
Associated morphologyGrowth alteration
Finding siteHead structure
OccurrenceFetal period
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
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