Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Congenital anomaly of eye	Congenital malformation of ear	Developmental hereditary disorder	Hereditary disorder of the visual system	Multiple malformation syndrome with limb defect as major feature
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Upper limb defect with eye and ear abnormalities syndrome (disorder)
	Upper limb defect with eye and ear abnormalities syndrome
	This syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. This syndrome has been reported in two siblings. The inheritance is probably autosomal recessive.
	syndroom van defect van bovenste ledemaat en afwijkingen aan oog en oor
	syndroom van defect van bovenste ledemaat en oog- en oorafwijkingen

Id	716110002
Status	Primitive

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

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

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