Genetic disease
Multiple system malformation syndrome
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Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome (disorder)
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome
PERCHING syndrome
KLHL7 (kelch like family member 7) related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome
Kelch like family member 7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome
A rare genetic, multiple congenital anomalies syndrome with characteristics of the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.
Id1304116002
StatusPrimitive
Associated morphologyMorphologically abnormal structure
OccurrenceCongenital
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