Terms & Properties

Preferred Name:  Pulmonary Surfactant Metabolism Dysfunction-3

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.

Label:  Pulmonary Surfactant Metabolism Dysfunction-3

NCI Thesaurus Code:  C99070 (Search for linked caDSR metadata)   (search value sets)

NCI Metathesaurus Link:  C3274520  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)

Interstitial Lung Disease Due To ABCA3 Deficiency

Pulmonary Surfactant Metabolism Dysfunction-3

SMDP3

Surfactant Apoprotein ABCA3 Deficiency

Surfactant Metabolism Dysfunction-3

Surfactant Protein ABCA3 Deficiency

External Source Codes: 

UMLS CUI

C3274520

Other Properties:

Name	Value (qualifiers indented underneath)
code	C99070
Contributing_Source	Cellosaurus
Contributing_Source	NICHD
Semantic_Type	Disease or Syndrome

Additional Concept Data: 

Defined Fully by Roles: No

URL:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C99070