Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Multiple malformation syndrome with limb defect as major feature
Spondylodysplastic group
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Spondylocamptodactyly syndrome (disorder)
Spondylocamptodactyly syndrome
Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance.
spondylocamptodactylie-syndroom
Id716231009
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified