Mannosidosis, type I

disorder

SNOMED 62311004CUI C0342847

Overview

Mannosidosis, type I 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.

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Abnormal skeletal morphology

Very frequent (80-99%)HP:0011842

Dull intelligence

Very frequent (80-99%)HP:0001249

Dysostosis multiplex

Very frequent (80-99%)HP:0000943

Immune deficiency

Very frequent (80-99%)HP:0002721

Oligosacchariduria

Very frequent (80-99%)HP:0010471

Otitis media

Very frequent (80-99%)HP:0000388

Predisposition to infections

Very frequent (80-99%)HP:0002719

Specific learning disability

Very frequent (80-99%)HP:0001328

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Ataxia

Frequent (30-79%)HP:0001251

Delayed motor milestones

Frequent (30-79%)HP:0001270

Facial shape compression

Frequent (30-79%)HP:0011334

Hearing loss, mixed

Frequent (30-79%)HP:0000410

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Hyperopia

Frequent (30-79%)HP:0000540

Increased distance between eyes

Frequent (30-79%)HP:0000316

Lens opacities

Frequent (30-79%)HP:0000518

Mental retardation, mild

Frequent (30-79%)HP:0001256

Muscular hypotonia

Frequent (30-79%)HP:0001252

Myopathy

Frequent (30-79%)HP:0003198

Near sighted

Frequent (30-79%)HP:0000545

Pneumonia

Frequent (30-79%)HP:0002090

Poor attention span

Frequent (30-79%)HP:0000736

Recurrent gastroenteritis

Frequent (30-79%)HP:0031123

Squint

Frequent (30-79%)HP:0000486

Thickened facial skin with coarse facial features

Frequent (30-79%)HP:0000280

Weakness

Frequent (30-79%)HP:0025406

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Abnormality of the hypophysial fossa

Occasional (5-29%)HP:0002679

Related Conditions

Mannosidosis(parent)

Quick Facts

SNOMED CT: 62311004
UMLS CUI: C0342847
Fully Specified Name: Mannosidosis, type I (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.