Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Contracture of the distal interphalangeal joint of the fingers
Always present (100%)HP:0009697
Dermatan sulphate excretion in urine
Always present (100%)HP:0008301
Dysostosis multiplex
Always present (100%)HP:0000943
Growth deficiency
Always present (100%)HP:0001510
Hand pain
Always present (100%)HP:0046505
Heparan sulphate excretion in urine
Always present (100%)HP:0002159
Inguinal hernia
Always present (100%)HP:0000023
Proximal interphalangeal finger joint contractures
Always present (100%)HP:0100490
Stiff joint
Always present (100%)HP:0001387
Thenar muscle atrophy
Always present (100%)HP:0003393
Umbilical hernia
Always present (100%)HP:0001537
Abnormality of the tonsils
Very frequent (80-99%)HP:0100765
Corneal opacity
Very frequent (80-99%)HP:0007957
Decreased body height
Very frequent (80-99%)HP:0004322
Enlarged liver
Very frequent (80-99%)HP:0002240
Hernia
Very frequent (80-99%)HP:0100790
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Multiple vertebral anomalies
Very frequent (80-99%)HP:0003468
Rhinitis
Very frequent (80-99%)HP:0012384
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Valvular heart disease
Very frequent (80-99%)HP:0001654
Corticospinal signs
Frequent (30-79%)HP:0007256
Nerve conduction abnormalities
Frequent (30-79%)HP:0040129
Sensorineural deafness
Frequent (30-79%)HP:0000407
Spinal stenosis
Frequent (30-79%)HP:0003416
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Generalized hirsutism
Occasional (5-29%)HP:0002230
Aortic valve regurgitation
HP:0001659
Cobb angle greater than ten degrees
HP:0002650
Related Conditions
Quick Facts
- SNOMED CT
- 26745009
- UMLS CUI
- C0086431
- Fully Specified Name
- Mucopolysaccharidosis type I-H/S (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.