Aphonia	Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Congenital hearing disorder	Congenital hearing loss	Developmental hereditary disorder	Hearing loss	Hereditary retinal dystrophy	Intellectual disability	Multiple malformation syndrome with limb defect as major feature	Perodactylia of great toe
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Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
	Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
	syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke beperking
	syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke handicap syndroom van afonie, doofheid, retinadystrofie, bifide hallux en mentale retardatie

Id	773583007
Status	Primitive

Associated morphology	Bilobed structure
Finding site	Hallux structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Structure of auditory system
Occurrence	Congenital

Associated morphology	Dystrophy
Finding site	Retinal structure
Occurrence	Congenital

Interprets

Has interpretation	Abnormal
Interprets	Ability to perform functions related to communication

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified