Auditory system hereditary disorder	Autosomal dominant hereditary disorder	Developmental hereditary disorder	Hearing loss associated with syndrome	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Ramos Arroyo syndrome (disorder)
	Ramos Arroyo syndrome
	Corneal anesthesia, deafness, intellectual disability syndrome
	An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.
	syndroom van corneale anesthesie, doofheid en verstandelijke beperking
	syndroom van corneale anesthesie, doofheid en mentale retardatie syndroom van corneale anesthesie, doofheid en verstandelijke handicap syndroom van Ramos Arroyo

Id	723504000
Status	Primitive

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

Finding site

Structure of auditory system

Interprets

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified