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Adenosine deaminase 2 deficiency

disorder
SNOMED 987840791000119102CUI C4289994

Overview

Adenosine deaminase 2 deficiency 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.

Difficulty finding words
Always present (100%)HP:0002381
Elevated CRP
Always present (100%)HP:0011227
Elevated sedimentation rate
Always present (100%)HP:0003565
Hepatosplenomegaly
Always present (100%)HP:0001433
Mouth ulcer
Always present (100%)HP:0000155
Recurrent middle ear infection
Always present (100%)HP:0000403
Recurrent sinus infections
Always present (100%)HP:0011108
Reduced circulating ADA2 activity
Always present (100%)HP:6000562
Subclinical abnormal liver function tests
Always present (100%)HP:0002910
Cerebral vascular events
Very frequent (80-99%)HP:0001297
Large spleen
Very frequent (80-99%)HP:0001744
Absolute lymphocyte count decrease
Frequent (30-79%)HP:0001888
Arthralgias
Frequent (30-79%)HP:0002829
Blood spots
Frequent (30-79%)HP:0000979
Cutis marmorata
Frequent (30-79%)HP:0000965
Decreased serum immunoglobulin
Frequent (30-79%)HP:0004313
Dermatitis
Frequent (30-79%)HP:0000964
Enlarged liver
Frequent (30-79%)HP:0002240
Immune deficiency
Frequent (30-79%)HP:0002721
Increased platelet count
Frequent (30-79%)HP:0001894
Indurated skin
Frequent (30-79%)HP:0030053
Inflammation of blood vessel
Frequent (30-79%)HP:0002633
Intermittent fever
Frequent (30-79%)HP:0001954
Leukopenia
Frequent (30-79%)HP:0001882
Livedo racemosa
Frequent (30-79%)HP:0033260
Lupus anticoagulant
Frequent (30-79%)HP:0025343
Lymphoproliferative disorders
Frequent (30-79%)HP:0005523
Muscle pain
Frequent (30-79%)HP:0003326
Open skin sore
Frequent (30-79%)HP:0200042
Pancytopenia
Frequent (30-79%)HP:0001876

Quick Facts

SNOMED CT
987840791000119102
UMLS CUI
C4289994
Fully Specified Name
Adenosine deaminase 2 deficiency (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.