Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Congenital neurological disorder	Congenital sensorineural hearing loss	Developmental hereditary disorder	Disorder of ear	Disorder of sensory function	Dystonia	Hearing loss associated with syndrome	Hereditary disorder of nervous system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
	Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
	A rare genetic neurological with characteristics of intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Caused by hemizygous mutation in the BCAP31 gene on chromosome Xq28.
	syndroom van ernstige motorische en verstandelijke beperking, perceptief gehoorverlies en dystonie
	syndroom van ernstige motorische en verstandelijke handicap, perceptief gehoorverlies en dystonie syndroom van ernstige motorische en mentale retardatie, perceptief gehoorverlies en dystonie

Id	770751003
Status	Primitive

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

Finding site	Extrapyramidal system structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Ear structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

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