Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cheekbone rash
Always present (100%)HP:0025300
Elevated glycated haemoglobin
Always present (100%)HP:0040217
Fatty liver
Always present (100%)HP:0001397
NIDDM
Always present (100%)HP:0005978
Patchy hypopigmentation
Always present (100%)HP:0005590
Recurrent URI
Always present (100%)HP:0002788
Ruddy face
Always present (100%)HP:0001041
Adipose tissue loss
Very frequent (80-99%)HP:0008887
Decreased serum immunoglobulin
Very frequent (80-99%)HP:0004313
Growth deficiency
Very frequent (80-99%)HP:0001510
Immunological abnormality
Very frequent (80-99%)HP:0002715
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Low birth weight
Very frequent (80-99%)HP:0001518
Marked growth retardation
Very frequent (80-99%)HP:0008850
Abnormal CD8+ T cell proportion
Frequent (30-79%)HP:0031393
Body fails to respond to insulin
Frequent (30-79%)HP:0000855
Cafe-au-lait spots
Frequent (30-79%)HP:0000957
Cutaneous photosensitivity
Frequent (30-79%)HP:0000992
Decreased head circumference
Frequent (30-79%)HP:0040195
Decreased proportion of CD4-positive T cells
Frequent (30-79%)HP:0032218
Decreased serum IgG
Frequent (30-79%)HP:0004315
Gastroesophageal reflux disease
Frequent (30-79%)HP:0002020
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Loss of appetite
Frequent (30-79%)HP:0004396
Low levels of immunoglobulin A
Frequent (30-79%)HP:0002720
Male infertility
Frequent (30-79%)HP:0003251
Oncology
Frequent (30-79%)HP:0002664
Otitis media
Frequent (30-79%)HP:0000388
Premature menopause
Frequent (30-79%)HP:0008209
Quick Facts
- SNOMED CT
- 4434006
- UMLS CUI
- C0005859
- Fully Specified Name
- Bloom 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.