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Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
Radioulnar synostosis with developmental delay and hypotonia syndrome
Der Kaloustian McIntosh Silver syndrome
An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears).
syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en hypotonie
syndroom van Der Kaloustian-McIntosh-Silver
syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en verminderde spiertonus
Der Kaloustian-McIntosh-Silver-syndroom
Id721883006
StatusPrimitive
Associated morphologyCongenital abnormal fusion
Finding siteBone structure of ulna
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital abnormal fusion
Finding siteBone structure of radius
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace 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