Autosomal dominant hereditary disorder
Autosomal dominant hereditary disorder
Congenital anomaly of face bones
Congenital anomaly of face bones
Congenital anomaly of skull
Congenital anomaly of skull
Congenital facial dysplasia
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of musculoskeletal system
Lesion of face
Multiple malformation syndrome with facial-limb defects as major feature
Multiple malformation syndrome with facial-limb defects as major feature
Skeletal dysplasia
Skeletal dysplasia
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Craniofacial conodysplasia syndrome (disorder)
Craniofacial conodysplasia syndrome
This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.
syndroom van craniofaciale conodysplasie
craniofaciale conodysplasie
Id720754008
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure of cranium
OccurrenceCongenital
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteLimb structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure of face
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified