Autosomal recessive hereditary spastic paraplegia	Congenital macrocephaly	Congenital neurological disorder	Developmental hereditary disorder	Multiple malformation syndrome with facial defects as major feature
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Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
	Fryns macrocephaly
	Macrocephaly with spastic paraplegia and dysmorphism syndrome
	A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
	syndroom van macrocefalie, spastische paraplegie en dysmorfie
	Fryns-macrocefalie

Id	716108004
Status	Primitive

Finding site

Lower limb structure

Associated morphology	Enlargement
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Degenerative abnormality
Finding site	Spinal cord structure

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

Has interpretation	Above reference range
Interprets	Head circumference

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0
Correlation	SNOMED CT source code to target map code correlation not specified