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Acatalasemia

disorder
SNOMED 267454002CUI C0268419

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.

Reduced circulating catalase activity
Very frequent (80-99%)HP:0012517
Bleeding gums
Occasional (5-29%)HP:0000225
Death of body tissue due to lack of blood flow or infection
Occasional (5-29%)HP:0100758
Microcytic anemia
Occasional (5-29%)HP:0001935
NIDDM
Occasional (5-29%)HP:0005978
Old-aged sensorineural hearing impairment
Occasional (5-29%)HP:0040113
Red and swollen gums
Occasional (5-29%)HP:0000230
Severe pyorrhea
Occasional (5-29%)HP:0000166
Blotchy loss of skin colour
Very rare (1-4%)HP:0001045
Hardened artery wall
Very rare (1-4%)HP:0002634
Neoplasm of the larynx
Very rare (1-4%)HP:0100605
Pain
Very rare (1-4%)HP:0012531
Parkinsonian disease
Very rare (1-4%)HP:0001300
Premature loss of secondary teeth
Very rare (1-4%)HP:0006357
Schizophrenia
Very rare (1-4%)HP:0100753
Type I diabetes mellitus
Very rare (1-4%)HP:0100651
Mouth ulcer
HP:0000155

Quick Facts

SNOMED CT
267454002
UMLS CUI
C0268419
Fully Specified Name
Acatalasemia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
17
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.