Shwachman-Diamond syndrome 1
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (76 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Pancytopenia
Pancytopenia
- MedGen UID: 18281
- Concept ID: C0030312
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Persistence of hemoglobin F
Persistence of hemoglobin F
- MedGen UID: 68693
- Concept ID: C0239941
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of limbs
- Coxa vara
Coxa vara
- MedGen UID: 1790477
- Concept ID: C5551440
- Finding: Anatomical Abnormality
Abnormality of limbs
- Coxa vara
- Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
- Abnormality of the cardiovascular system
- Myocardial necrosis
Myocardial necrosis
- MedGen UID: 254841
- Concept ID: C1442837
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Myocardial necrosis
- Abnormality of the digestive system
- Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
- MedGen UID: 75647
- Concept ID: C0267963
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Steatorrhea
Steatorrhea
- MedGen UID: 20948
- Concept ID: C0038238
- Finding: Finding
Abnormality of the digestive system
- Exocrine pancreatic insufficiency
- Abnormality of the genitourinary system
- Nephrocalcinosis
Nephrocalcinosis
- MedGen UID: 10222
- Concept ID: C0027709
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrocalcinosis
- Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Neutropenia
- Abnormality of the musculoskeletal system
- Anterior rib cupping
Anterior rib cupping
- MedGen UID: 337520
- Concept ID: C1846154
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Enlargement of the costochondral junction
Enlargement of the costochondral junction
- MedGen UID: 346535
- Concept ID: C1857180
- Finding: Finding
Abnormality of the musculoskeletal system
- Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends
- MedGen UID: 376700
- Concept ID: C1850083
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia
- MedGen UID: 120528
- Concept ID: C0265290
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Metaphyseal sclerosis
Metaphyseal sclerosis
- MedGen UID: 765440
- Concept ID: C3552526
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal widening
Metaphyseal widening
- MedGen UID: 341364
- Concept ID: C1849039
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow chest
Narrow chest
- MedGen UID: 96528
- Concept ID: C0426790
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow greater sciatic notch
Narrow greater sciatic notch
- MedGen UID: 154353
- Concept ID: C0566888
- Finding: Finding
Abnormality of the musculoskeletal system
- Ovoid vertebral bodies
Ovoid vertebral bodies
- MedGen UID: 344549
- Concept ID: C1855665
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal femoral epiphysiolysis
Proximal femoral epiphysiolysis
- MedGen UID: 57704
- Concept ID: C0149887
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Proximal femoral metaphyseal irregularity
Proximal femoral metaphyseal irregularity
- MedGen UID: 324485
- Concept ID: C1836320
- Finding: Finding
Abnormality of the musculoskeletal system
- Anterior rib cupping
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Specific learning disability
Specific learning disability
- MedGen UID: 871302
- Concept ID: C4025790
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Global developmental delay
- Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Neonatal respiratory distress
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Failure to thrive
- Neoplasm
- Acute myeloid leukemia
Acute myeloid leukemia
- MedGen UID: 9730
- Concept ID: C0023467
- Finding: Neoplastic Process
Neoplasm
- Myelodysplasia
Myelodysplasia
- MedGen UID: 10231
- Concept ID: C0026985
- Finding: Congenital Abnormality
Neoplasm
- Acute myeloid leukemia
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