Surfactant metabolism dysfunction, pulmonary, 4
- Synonyms
- CSF2RA DEFICIENCY; CSF2RA-Related Pulmonary Surfactant Metabolism Dysfunction; PAP DUE TO CSF2RA DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of the respiratory system
- Decreased DLCO
Decreased DLCO
- MedGen UID: 892993
- Concept ID: C4073175
- Finding: Finding
Abnormality of the respiratory system
- Ground-glass opacification
Ground-glass opacification
- MedGen UID: 1779663
- Concept ID: C5539411
- Finding: Finding
Abnormality of the respiratory system
- Pulmonary alveolar proteinosis
Pulmonary alveolar proteinosis
- MedGen UID: 1763046
- Concept ID: C5400698
- Finding: Finding
Abnormality of the respiratory system
- Reduced forced expiratory volume in one second
Reduced forced expiratory volume in one second
- MedGen UID: 1687063
- Concept ID: C5139283
- Finding: Finding
Abnormality of the respiratory system
- Reduced forced vital capacity
Reduced forced vital capacity
- MedGen UID: 337630
- Concept ID: C1846678
- Finding: Finding
Abnormality of the respiratory system
- Restrictive ventilatory defect
Restrictive ventilatory defect
- MedGen UID: 478856
- Concept ID: C3277226
- Finding: Finding
Abnormality of the respiratory system
- Tachypnea
Tachypnea
- MedGen UID: 66669
- Concept ID: C0231835
- Finding: Finding
Abnormality of the respiratory system
- Decreased DLCO
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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