Autosomal dominant hereditary disorder	Congenital macrocephaly	Developmental hereditary disorder	Multiple malformation syndrome with early overgrowth	Multiple malformation syndrome with facial defects as major feature
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Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
	Overgrowth, macrocephaly, facial dysmorphism syndrome
	RNF135 (ring finger protein 135) related overgrowth syndrome Ring finger protein 135 related overgrowth syndrome
	This syndrome has characteristics of tall stature, learning difficulties and facial dysmorphism. So far, it has been described in six families. The syndrome is caused by mutations in the RNF135 (ring finger protein 135) gene.
	syndroom van overgroei, macrocefalie en faciale dysmorfie

Id	722122000
Status	Primitive

Associated morphology	Enlargement
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	Above reference range
Interprets	Head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.3
Rule	TRUE
Advice	ALWAYS Q87.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified