Auditory system hereditary disorder	Autosomal dominant hereditary disorder	Congenital microcephaly	Developmental hereditary disorder	Hearing loss	Hearing loss	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Microcephaly with deafness and intellectual disability syndrome (disorder)
	Kawashima Tsuji syndrome
	Microcephaly with deafness and intellectual disability syndrome
	This syndrome has manifestations of microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
	syndroom van microcefalie, doofheid en verstandelijke beperking
	syndroom van Kawashima-Tsuji syndroom van microcefalie, doofheid en verstandelijke handicap syndroom van microcefalie, doofheid en mentale retardatie

Id	716112005
Status	Primitive

Finding site

Structure of auditory system

Has interpretation	Impaired
Interprets	Hearing

Associated morphology	Congenital smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Has interpretation	Below reference range
Interprets	Birth head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0
Correlation	SNOMED CT source code to target map code correlation not specified