Congenital anomaly of face bones	Congenital anomaly of face bones	Congenital facial dysplasia	Developmental hereditary disorder	Dysostosis	Dysostosis	Hereditary disorder of musculoskeletal system	Hereditary disorder of musculoskeletal system	Lesion of face	Multiple malformation syndrome with facial-limb defects as major feature	Multiple malformation syndrome with facial-limb defects as major feature	X-linked recessive hereditary disease
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X-linked mandibulofacial dysostosis (disorder)
	X-linked mandibulofacial dysostosis
	Mandibulofacial dysostosis Toriello type
	An extremely rare multiple congenital abnormality syndrome that has characteristics of microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
	X-gebonden mandibulofaciale dysostose
	X-gebonden dysostosis mandibulofacialis

Id	719813003
Status	Primitive

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

Associated morphology	Dysplasia
Finding site	Bone structure of face
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q75.4
Rule	TRUE
Advice	ALWAYS Q75.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified