Autosomal recessive hereditary disorder	Congenital malformation of corpus callosum	Developmental hereditary disorder	Hereditary disorder of nervous system	Intellectual disability	Microcephaly	Multiple system malformation syndrome
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Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
	Microcephaly, thin corpus callosum, intellectual disability syndrome
	A rare genetic syndromic intellectual disability disease with characteristics of progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Caused by homozygous mutation in the TAF2 gene on chromosome 8q23.
	syndroom van microcefalie, dun corpus callosum en verstandelijke beperking
	syndroom van microcefalie, dun corpus callosum en verstandelijke handicap syndroom van microcefalie, dun corpus callosum en mentale retardatie

Id	770721009
Status	Primitive

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

Has interpretation	Below reference range
Interprets	Head circumference

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