Short stature with valvular heart disease and characteristic facies syndrome

disorder

SNOMED 716193004CUI C4274784

Overview

Short stature with valvular heart disease and characteristic facies 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.

Curvature of little finger

Very frequent (80-99%)HP:0004209

Delayed skeletal development

Very frequent (80-99%)HP:0002750

Dental anomalies

Very frequent (80-99%)HP:0000164

Disproportionate short stature

Very frequent (80-99%)HP:0003498

Disproportionately small hands

Very frequent (80-99%)HP:0200055

Eye drop

Very frequent (80-99%)HP:0000508

High arched palate

Very frequent (80-99%)HP:0000218

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Large facies

Very frequent (80-99%)HP:0100729

Mitral valve prolapse

Very frequent (80-99%)HP:0001634

Pulmonary stenosis

Very frequent (80-99%)HP:0001642

Tooth size discrepancy

Very frequent (80-99%)HP:0000678

Valvular abnormality

Very frequent (80-99%)HP:0001654

Muscular hypotonia

Occasional (5-29%)HP:0001252

Related Conditions

Autosomal dominant hereditary disorder(parent)

Cardiac valvular malformation(parent)

Multiple malformation syndrome, moderate short stature, facial(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716193004
UMLS CUI: C4274784
Fully Specified Name: Short stature with valvular heart disease and characteristic facies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.