Autosomal recessive hereditary disorder	Congenital microcephaly	Developmental hereditary disorder	Global developmental delay	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)
	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Beaulieu Boycott Innes syndrome BBIS - Beaulieu Boycott Innes syndrome
	A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13.
	syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie
	BBIS syndroom van Beaulieu-Boycott-Innes

Id	773554009
Status	Primitive

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 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified