Surfactant Protein C Deficiency

Preferred Label : Surfactant Protein C Deficiency;

NCIt related terms : Surfactant Apoprotein C Deficiency;

NCIt definition : Deficiency of surfactant protein C. It leads to progressive lung fibrosis.;

Détails

Origin ID

C99069;

UMLS CUI

C3274519;

Currated CISMeF NLP mapping
- Surfactant metabolism dysfunction, pulmonary, 2 [OMIM Phenotype]
- surfactant metabolism dysfunction, pulmonary, 2 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Interstitial lung disease due to surfactant protein C deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SFTPC Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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