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

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Lung finding\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Lung finding\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)

\Respiratory finding\Lower respiratory tract finding\Lung finding\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)
\Disease\Disorder of connective tissue (disorder)\Interstitial lung disease\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

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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

13771281000172116 interstitiële longaandoening door deficiëntie van ABC subfamilie 3A nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13771291000172118 interstitiële longziekte door deficiëntie van ATP-bindende cassette subfamilie 3A nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13771301000172117 interstitiële longziekte door ABCA3-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

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

This concept is not in any reference sets

Back to Start

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
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
13771281000172116	interstitiële longaandoening door deficiëntie van ABC subfamilie 3A	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13771291000172118	interstitiële longziekte door deficiëntie van ATP-bindende cassette subfamilie 3A	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13771301000172117	interstitiële longziekte door ABCA3-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)