Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Anteriorly splayed ribs
Always present (100%)HP:0000907
Proximal femoral metaphyseal irregularity
Always present (100%)HP:0003411
Digestive system disease
Very frequent (80-99%)HP:0011024
Fat malabsorption
Very frequent (80-99%)HP:0002630
Hematological abnormality
Very frequent (80-99%)HP:0001871
Low number of red blood cells or haemoglobin
Very frequent (80-99%)HP:0001903
Skeletal anomalies
Very frequent (80-99%)HP:0000924
Behavioral symptoms
Frequent (30-79%)HP:0000708
Chronic neutropenia
Frequent (30-79%)HP:0410252
Deficient in vitamin D
Frequent (30-79%)HP:0100512
Delayed skeletal development
Frequent (30-79%)HP:0002750
Fat in feces
Frequent (30-79%)HP:0002570
Hypoamylasemia
Frequent (30-79%)HP:0410289
Hypoplastic pancreas
Frequent (30-79%)HP:0002594
Impaired neutrophil chemotaxis
Frequent (30-79%)HP:0040238
Increased MCV
Frequent (30-79%)HP:0005518
Increased serum bile acid concentration
Frequent (30-79%)HP:0012202
Low levels of vitamin A
Frequent (30-79%)HP:0004905
Low levels of vitamin K
Frequent (30-79%)HP:0011892
Low platelet count
Frequent (30-79%)HP:0001873
Macrocytic anemia
Frequent (30-79%)HP:0001972
Malnutrition
Frequent (30-79%)HP:0004395
Normocytic anemia
Frequent (30-79%)HP:0001897
Poor growth
Frequent (30-79%)HP:0001510
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Transiently decreased total neutrophil count
Frequent (30-79%)HP:0410255
Vitamin E deficiency
Frequent (30-79%)HP:0100513
Abnormal shape of joints
Occasional (5-29%)HP:0001367
Abnormality of the thoracic cavity
Occasional (5-29%)HP:0045027
Acute myeloid leukaemia
Occasional (5-29%)HP:0004808
Related Conditions
Metaphyseal chondrodysplasia(parent)
Pancreatic insufficiency(parent)
Congenital neutropenia(parent)
Hereditary disorder of musculoskeletal system(parent)
Digestive system hereditary disorder(parent)
Hereditary white blood cell disorder(parent)
Hereditary neoplastic syndrome(parent)
Hereditary disorder of endocrine system(parent)
Developmental hereditary disorder(parent)
Disorder of digestive system specific to fetus OR newborn(parent)
Quick Facts
- SNOMED CT
- 89454001
- UMLS CUI
- C0272170
- Fully Specified Name
- Shwachman 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.