Autosomal recessive hereditary disorder
Chondrodysplasia punctata
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
||||
Chondrodysplasia punctata Toriello type (disorder)
Chondrodysplasia punctata Toriello type
Toriello Higgins Miller syndrome
Chondrodysplasia punctata syndrome with stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Congenital heart disease and central nervous system anomalies are also reported.
chondrodysplasia punctata Toriello-type
syndroom van Toriello-Higgins-Miller
Id715631005
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified