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Severe combined immunodeficiency with hypereosinophilia
disorderSNOMED 722067005CUI C2700553
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absence of scalp hair
Always present (100%)HP:0002293
Absent circulating B cells
Always present (100%)HP:0030252
Absent circulating T cells
Always present (100%)HP:0025805
Absent eyebrows
Always present (100%)HP:0002223
Absent natural killer cells
Always present (100%)HP:0040219
Agammaglobulinaemia
Always present (100%)HP:0004432
Axillary lymphadenopathy
Always present (100%)HP:0034752
B cell lymphopenia
Always present (100%)HP:0010976
Bacteria in blood culture
Always present (100%)HP:0031864
Cerebrospinal fluid pleocytosis
Always present (100%)HP:0012229
Cervical lymphadenopathy
Always present (100%)HP:0025289
Chronic oral thrush
Always present (100%)HP:0009098
Complete or near-complete absence of specific antibody response to tetanus vaccine
Always present (100%)HP:0410295
Congenital exfoliative erythroderma
Always present (100%)HP:0007381
Decreased anti-CD3/28-induced T-cell proliferation
Always present (100%)HP:0031382
Decreased natural antibody to blood group agents
Always present (100%)HP:0032139
Decreased proportion of CD8-positive T cells
Always present (100%)HP:0005415
Decreased serum IgG
Always present (100%)HP:0004315
Dermatitis
Always present (100%)HP:0000964
Elevated C-reactive protein level
Always present (100%)HP:0011227
Eosinophilic dermatitis
Always present (100%)HP:0032022
Epidermal hyperkeratosis
Always present (100%)HP:0000962
Erythema
Always present (100%)HP:0010783
Failure of development of eyelashes
Always present (100%)HP:0000561
Fragile hair
Always present (100%)HP:0002299
Generalized lymphadenopathy
Always present (100%)HP:0008940
High immunoglobulin E
Always present (100%)HP:0003212
Hypoalbuminaemia
Always present (100%)HP:0003073
Immune deficiency
Always present (100%)HP:0002721
Impaired lymphocyte transformation with phytohemagglutinin
Always present (100%)HP:0003347
Quick Facts
- SNOMED CT
- 722067005
- UMLS CUI
- C2700553
- Fully Specified Name
- Omenn syndrome (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.