Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Congenital anomaly of femur	Congenital sensorineural hearing loss	Developmental hereditary disorder	Epiphyseal dysplasia	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial-limb defects as major feature
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Deafness with epiphyseal dysplasia and short stature syndrome (disorder)
	Chitty Hall Baraitser syndrome
	Deafness with epiphyseal dysplasia and short stature syndrome
	This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait.
	syndroom van doofheid, epifysaire dysplasie en kleine gestalte
	syndroom van Chitty-Hall-Baraitser

Id	716238003
Status	Primitive

Finding site	Structure of auditory system
Occurrence	Congenital

Has interpretation	Impaired
Interprets	Hearing

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Femoral epiphysis
Occurrence	Congenital
Pathological process	Pathological developmental process

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified