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1222678003: Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5048470018 Interstitial lung disease due to ABCA3 (ATP-binding cassette subfamily A member 3) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048471019 Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048472014 Interstitial lung disease due to ABCA3 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5048517014 Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400012014 A rare genetic respiratory disease characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400013016 A rare genetic respiratory disease characterised by 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 dyspnoea. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) Is a Hereditary disorder by system true Inferred relationship Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) Finding site Structure of interstitial tissue of lung true Inferred relationship Some 1
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) Is a Interstitial lung disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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