SSM (seizures, scoliosis, macrocephaly) syndrome

disorder

SNOMED 1187250005CUI C4225248

Overview

SSM (seizures, scoliosis, macrocephaly) syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Epilepsy

Very frequent (80-99%)HP:0001250

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Speech delay

Very frequent (80-99%)HP:0000750

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of the auricle

Frequent (30-79%)HP:0000356

Autism

Frequent (30-79%)HP:0000717

Cerebral hemorrhage

Frequent (30-79%)HP:0001342

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Cryptorchidism

Frequent (30-79%)HP:0000028

Dermatopathy

Frequent (30-79%)HP:0000951

Dyschezia

Frequent (30-79%)HP:0002019

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased size of skull

Frequent (30-79%)HP:0000256

Intestinal malrotation

Frequent (30-79%)HP:0002566

Mental retardation, mild

Frequent (30-79%)HP:0001256

Moderate mental retardation

Frequent (30-79%)HP:0002342

Muscular hypotonia

Frequent (30-79%)HP:0001252

Nausea

Frequent (30-79%)HP:0002018

Overlapping toes

Frequent (30-79%)HP:0001845

Potato nose

Frequent (30-79%)HP:0000414

Proteinuria

Frequent (30-79%)HP:0000093

Renal anomalies

Frequent (30-79%)HP:0000077

Squint

Frequent (30-79%)HP:0000486

Unsteady walk

Frequent (30-79%)HP:0002317

VSD

Frequent (30-79%)HP:0001629

Wide based walk

Frequent (30-79%)HP:0002136

Atria septal defect

Occasional (5-29%)HP:0001631

Bulging forehead

Occasional (5-29%)HP:0011220

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Seizure disorder(parent)

Carbohydrate-deficient glycoprotein syndrome(parent)

Scoliosis deformity of spine(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1187250005
UMLS CUI: C4225248
Fully Specified Name: Seizures, scoliosis, macrocephaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.