surfactant metabolism dysfunction, pulmonary, 2

Preferred Label : surfactant metabolism dysfunction, pulmonary, 2;

MeSH note : aka SMDP2; mutations in SFTPC;

MeSH synonym : interstitial lung disease due to surfactant protein C deficiency; pulmonary alveolar proteinosis, congenital, 2; desquamative interstitial pneumonitis due to surfactant protein C deficiency;

Details

Origin ID

C567048;

UMLS CUI

C1970470;

Currated CISMeF NLP mapping
- Interstitial lung disease due to SP-C deficiency [ORDO Disease]
- Interstitial lung disease due to surfactant protein C deficiency (disorder) [SNOMED CT concept]
- Surfactant Protein C Deficiency [NCIt concept]
- Surfactant metabolism dysfunction, pulmonary, 2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- lung diseases, interstitial [MeSH Descriptor]
- pulmonary alveolar proteinosis [MeSH Descriptor]
- pulmonary surfactant-associated protein C [MeSH Descriptor]
Record concept(s)
- surfactant metabolism dysfunction, pulmonary, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Interstitial lung disease due to surfactant protein C deficiency (disorder) [SNOMED CT concept]
- Surfactant metabolism dysfunction, pulmonary, 2 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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