Pulmonary Surfactant Metabolism Dysfunction-3

Preferred Label : Pulmonary Surfactant Metabolism Dysfunction-3;

NCIt synonyms : Surfactant Protein ABCA3 Deficiency; SMDP3; Interstitial Lung Disease Due To ABCA3 Deficiency; Surfactant Metabolism Dysfunction-3;

NCIt related terms : Surfactant Apoprotein ABCA3 Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ABCA3 gene, encoding ATP-binding cassette sub-family A member 3. It is characterized by severe respiratory insufficiency or failure in neonates or infants.;

Details

Origin ID

C99070;

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]
- Surfactant metabolism dysfunction, pulmonary, 3 [OMIM Phenotype]
- surfactant metabolism dysfunction, pulmonary, 3 [MeSH Supplementary Concept]
- 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]
- Surfactant metabolism dysfunction, pulmonary, 3 [OMIM Phenotype]
- surfactant metabolism dysfunction, pulmonary, 3 [MeSH Supplementary Concept]
- surfactant metabolism dysfunction, pulmonary, 3 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ABCA3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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