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


Status: current, Primitive. 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 Active Initial character case insensitive SNOMED CT core
5048471019 Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
5048472014 Interstitial lung disease due to ABCA3 deficiency en Synonym Active Initial character case insensitive SNOMED CT core
5048517014 Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency en Synonym Active Initial character case insensitive SNOMED CT core
5048473016 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 dyspnoea. en Definition Active Case sensitive SNOMED CT core
5048474010 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. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Interstitial lung disease due to ABCA3 deficiency Is a Inherited disorder of connective tissue true Inferred relationship Some
Interstitial lung disease due to ABCA3 deficiency Is a Hereditary disorder by system true Inferred relationship Some
Interstitial lung disease due to ABCA3 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Interstitial lung disease due to ABCA3 deficiency Finding site Structure of interstitial tissue of lung true Inferred relationship Some 1
Interstitial lung disease due to ABCA3 deficiency Is a Interstitial lung disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

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