Pulmonary Surfactant Metabolism Dysfunction-1

Preferred Label : Pulmonary Surfactant Metabolism Dysfunction-1;

NCIt synonyms : Surfactant Protein B Deficiency; SMDP1;

NCIt related terms : Surfactant Apoprotein B Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant.;

Details

Origin ID

C99068;

UMLS CUI

C1968602;

Automatic exact mappings (from CISMeF team)
- pulmonary alveolar proteinosis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Surfactant metabolism dysfunction, pulmonary, 1 [OMIM Phenotype]
- congenital deficiency of pulmonary surfactant protein B [MeSH Supplementary Concept]
- congenital deficiency of pulmonary surfactant protein B [MeSH concept]
- surfactant metabolism dysfunction, pulmonary, 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Surfactant metabolism dysfunction, pulmonary, 1 [OMIM Phenotype]
- congenital deficiency of pulmonary surfactant protein B [MeSH Supplementary Concept]
- congenital deficiency of pulmonary surfactant protein B [MeSH concept]
- surfactant metabolism dysfunction, pulmonary, 1 [MeSH Supplementary Concept]
- surfactant metabolism dysfunction, pulmonary, 1 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SFTPB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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