Auditory system hereditary disorder
Autosomal hereditary disorder
Camptodactyly
Camptodactyly of digit of hand
Congenital anomaly of finger
Congenital deformity of hand
Developmental hereditary disorder
Dysostosis
Finding of musculoskeletal structure of digit of hand
Flexion deformity of hand
Hearing loss associated with syndrome
Hereditary disorder of musculoskeletal system
Multiple malformation syndrome with limb defect as major feature
|||||||||||||
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome
CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome
This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
syndroom van camptodactylie, grote gestalte, scoliose en gehoorverlies
CATSHL-syndroom
Id720601000
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFinger structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyFixed flexion deformity
Finding siteMusculoskeletal structure of digit of hand
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteStructure of auditory system
InterpretsHearing
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified