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Williams syndrome

disorder
SNOMED 63247009CUI C0175702

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Abnormal shape of nervous system
Very frequent (80-99%)HP:0012639
Abnormal social interactions
Very frequent (80-99%)HP:0012433
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Abnormality of balance
Very frequent (80-99%)HP:0002141
Abnormality of pelvic girdle bone morphology
Very frequent (80-99%)HP:0002644
Abnormality of the cardiovascular system
Very frequent (80-99%)HP:0001626
Ataxia
Very frequent (80-99%)HP:0001251
Blepharophimosis
Very frequent (80-99%)HP:0000581
Coarse face
Very frequent (80-99%)HP:0000280
Decreased body height
Very frequent (80-99%)HP:0004322
Depressive episode
Very frequent (80-99%)HP:0000716
Dysgraphia
Very frequent (80-99%)HP:0010526
Dysmetria
Very frequent (80-99%)HP:0001310
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Elf-like facial features
Very frequent (80-99%)HP:0004428
Excessive, persistent worry and fear
Very frequent (80-99%)HP:0000739
Extrapyramidal syndrome
Very frequent (80-99%)HP:0002071
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Full lower lip
Very frequent (80-99%)HP:0000179
Gait disturbance
Very frequent (80-99%)HP:0001288
Gastro pain
Very frequent (80-99%)HP:0002027
High forehead
Very frequent (80-99%)HP:0000348
High-grade hypermetropia
Very frequent (80-99%)HP:0008499
Husky voice
Very frequent (80-99%)HP:0001609
Hyperacusis
Very frequent (80-99%)HP:0010780
Hypercalcemia
Very frequent (80-99%)HP:0003072
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased reflexes
Very frequent (80-99%)HP:0001347
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431

Quick Facts

SNOMED CT
63247009
UMLS CUI
C0175702
Fully Specified Name
Williams 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.

Williams syndrome — Symptoms, Testing & Specialists | Ltrl | Healos