Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bone marrow smear shows erythroid hyperplasia
Always present (100%)HP:0012132
Delayed skeletal development
Always present (100%)HP:0002750
Elevated sedimentation rate
Always present (100%)HP:0003565
Intermittent fever
Always present (100%)HP:0001954
Joint swelling
Always present (100%)HP:0001386
Abnormal inflammatory response
Very frequent (80-99%)HP:0012647
Anomaly of the bone marrow cells
Very frequent (80-99%)HP:0005561
Arthritic pain
Very frequent (80-99%)HP:0002829
Bone pain
Very frequent (80-99%)HP:0002653
Cachexia
Very frequent (80-99%)HP:0004326
Congenital hypoplastic anaemia
Very frequent (80-99%)HP:0004810
Hepatosplenomegaly
Very frequent (80-99%)HP:0001433
Hypochromic, microcytic anaemia
Very frequent (80-99%)HP:0004840
Irregular metaphyses
Very frequent (80-99%)HP:0003025
Osteomyelitis
Very frequent (80-99%)HP:0002754
Papules
Very frequent (80-99%)HP:0200034
Pustules
Very frequent (80-99%)HP:0200039
Pyrexia
Very frequent (80-99%)HP:0001945
Weight loss
Very frequent (80-99%)HP:0001824
Acne
Frequent (30-79%)HP:0001061
Delayed puberty
Frequent (30-79%)HP:0000823
Enlarged liver
Frequent (30-79%)HP:0002240
Headache
Frequent (30-79%)HP:0002315
Increased bone mineral density
Frequent (30-79%)HP:0011001
Increased total leukocyte count
Frequent (30-79%)HP:0001974
Large spleen
Frequent (30-79%)HP:0001744
Microcytic anemia
Frequent (30-79%)HP:0001935
Muscle pain
Frequent (30-79%)HP:0003326
Poor weight gain
Frequent (30-79%)HP:0001508
Skin rash
Frequent (30-79%)HP:0000988
Related Conditions
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)
Chronic inflammatory disease(parent)
Chronic musculoskeletal disorder(parent)
Inflammatory disorder of musculoskeletal system(parent)
Congenital dyserythropoietic anemia(parent)
Congenital immunodeficiency disease(parent)
Chronic anemia(parent)
Hereditary disorder of immune system(parent)
Primary immune deficiency disorder(parent)
Disorder of bone development(parent)
Chronic disease of immune function(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 703540008
- UMLS CUI
- C1864997
- Fully Specified Name
- Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (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.