Code System Concept

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Code System Concept

Code System Concept Code	1222678003
Code System Concept Name	Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
Code System Preferred Concept Name	Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	09/01/2022
SDO Date Created	05/31/2022
SDO Date Revised	05/31/2022
Description	A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5048470018	Interstitial lung disease due to ABCA3 (ATP-binding cassette subfamily A member 3) deficiency	Active	Synonym	false	false
5048472014	Interstitial lung disease due to ABCA3 deficiency	Active	Synonym	false	false
5048517014	Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Hereditary disorder by system (disorder) {363137000 , SNOMED-CT } Interstitial lung disease (disorder) {233703007 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,