surfactant metabolism dysfunction, pulmonary, 3

Preferred Label : surfactant metabolism dysfunction, pulmonary, 3;

MeSH note : aka SMDP3; mutations in ABCA3;

MeSH synonym : interstitial lung disease due to ABCA3 deficiency; pulmonary alveolar proteinosis, congenital, 3;

Details

Origin ID

C567046;

UMLS CUI

C1970456;

Automatic exact mappings (from CISMeF team)
- Interstitial lung disease due to ABCA3 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) [SNOMED CT concept]
- Pulmonary Surfactant Metabolism Dysfunction-3 [NCIt concept]
- Surfactant metabolism dysfunction, pulmonary, 3 [OMIM Phenotype]
MeSH term(s) associated for indexing
- lung diseases, interstitial [MeSH Descriptor]
- pulmonary alveolar proteinosis [MeSH Descriptor]
Record concept(s)
- surfactant metabolism dysfunction, pulmonary, 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) [SNOMED CT concept]
- Pulmonary Surfactant Metabolism Dysfunction-3 [NCIt concept]
- Surfactant metabolism dysfunction, pulmonary, 3 [OMIM Phenotype]

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