Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Bilateral congenital malformation of external ears	Cleft palate	Congenital anomaly of ear with impairment of hearing	Developmental hereditary disorder	Microtia	Multiple system malformation syndrome
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Bilateral microtia with deafness and cleft palate syndrome (disorder)
	Bilateral microtia with deafness and cleft palate syndrome
	Syndrome with the association of bilateral microtia, severe to profound hearing impairment and cleft palate. It has been described in four individuals from a consanguineous Iranian family. The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice.
	syndroom van bilaterale microtie, doofheid en gespleten gehemelte

Id	717909004
Status	Primitive

Interprets

Associated morphology	Congenital smallness
Finding site	Left external ear structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Developmental failure of fusion
Finding site	Palatal structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital smallness
Finding site	Right external ear structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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