Autosomal dominant hereditary disorder	Congenital abnormality of skull shape	Congenital anomaly of bone and joint	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Sagittal craniosynostosis
\|	\|	\|	\|	\|	\|

Familial scaphocephaly syndrome McGillivray type (disorder)
	Familial scaphocephaly syndrome McGillivray type
	Scaphocephaly, macrocephaly, maxillary retrusion, intellectual disability syndrome
	A rare craniosynostosis syndrome with characteristics of scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported in 11 patients from a three-generation family. The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability. Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene FGFR2.
	syndroom van familiaire scafocefalie McGillivray-type
	syndroom van scafocefalie, macrocefalie, maxillaire retrusie en mentale retardatie syndroom van scafocefalie, macrocefalie, maxillaire retrusie en verstandelijke beperking syndroom van scafocefalie, macrocefalie, maxillaire retrusie en verstandelijke handicap

Id	725030006
Status	Primitive

Associated morphology	Abnormal shape
Finding site	Bone structure of cranium
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital premature fusion
Finding site	Structure of sagittal suture of skull
Occurrence	Congenital
Pathological process	Pathological developmental process

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