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Cardiospondylocarpofacial syndrome (disorder)
Cardiospondylocarpofacial syndrome
Forney syndrome
Mitral regurgitation with deafness and skeletal anomalies syndrome
Forney Robinson Pascoe syndrome
This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
cardiospondylocarpofaciaal syndroom
syndroom van mitralisklepinsufficiƫntie, doofheid en skeletafwijkingen
syndroom van Forney
syndroom van Forney-Robinson-Pascoe
Id720612000
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyValvular insufficiency
Finding siteMitral valve structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationImpaired
InterpretsCardiac function
Has interpretationImpaired
InterpretsHearing
Has interpretationImpaired
InterpretsHeight / growth measure
Associated morphologyMorphologically abnormal structure
Finding siteEar 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