Autosomal recessive hereditary disorder	Carbohydrate-deficient glycoprotein syndrome	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Inherited metabolic disorder of nervous system	Intellectual disability	Macrocephaly	Scoliosis deformity of spine	Seizure disorder
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Seizures, scoliosis, macrocephaly syndrome (disorder)
	Seizures, scoliosis, macrocephaly syndrome
	SSM (seizures, scoliosis, macrocephaly) syndrome
	A rare genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.
	syndroom van aanvallen, scoliose en macrocefalie
	SSM-syndroom

Id	1187250005
Status	Primitive

Occurrence

Finding site

Brain structure

Pathological process

Pathological developmental process

Has interpretation	Above reference range
Interprets	Head circumference

Associated morphology	Lateral abnormal curvature
Finding site	Musculoskeletal structure of spine

ICD-10 complex map reference set

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified