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Attenuated Chédiak-Higashi syndrome

disorder
SNOMED 720520009CUI C4304022

Overview

Attenuated Chédiak-Higashi 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.

Abnormality of coagulation
Very frequent (80-99%)HP:0001928
Albinism, Ocular
Very frequent (80-99%)HP:0001107
Bleeding gums
Very frequent (80-99%)HP:0000225
Bruising susceptibility
Very frequent (80-99%)HP:0000978
Fair skin
Very frequent (80-99%)HP:0007513
Frequent nosebleeds
Very frequent (80-99%)HP:0000421
Immune deficiency
Very frequent (80-99%)HP:0002721
Neuropathy
Very frequent (80-99%)HP:0009830
Open skin sore
Very frequent (80-99%)HP:0200042
Poor school performance
Very frequent (80-99%)HP:0001249
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Abnormality of movement
Occasional (5-29%)HP:0100022
Extrapyramidal syndrome
Occasional (5-29%)HP:0002071
Hypertonia
Occasional (5-29%)HP:0001276
Incoordination
Occasional (5-29%)HP:0002311

Quick Facts

SNOMED CT
720520009
UMLS CUI
C4304022
Fully Specified Name
Attenuated Chédiak-Higashi syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
15
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.