Congenital anomaly of skeletal bone
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Skeletal dysplasia
X-linked dominant hereditary disease
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Otopalatodigital syndrome spectrum disorder (disorder)
Otopalatodigital syndrome spectrum disorder
OPD (otopalatodigital) spectrum disorder
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.
otopalatodigitaal syndroom-spectrumstoornis
OPD-spectrumstoornis
Id784010006
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
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
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Frontometaphyseal dysplasia
Melnick-Needles syndrome
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Terminal osseous dysplasia and pigmentary defect syndrome