Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Congenital anomaly of skeletal bone	Congenital cataract	Developmental hereditary disorder	Hearing loss associated with syndrome	Hereditary disorder of musculoskeletal system	Hereditary disorder of the visual system	Sensorineural hearing loss
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Deafness with cataract and skeletal anomaly syndrome (disorder)
	Nathalie syndrome
	Deafness with cataract and skeletal anomaly syndrome
	Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
	syndroom van doofheid, cataract en skeletafwijkingen
	syndroom van Nathalie

Id	716170005
Status	Primitive

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

Associated morphology	Opacity
Finding site	Lens clear
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site

Structure of auditory system

Has interpretation	Impaired
Interprets	Hearing

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