1222677008: Interstitial lung disease due to surfactant protein C 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 surfactant protein C 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 surfactant protein C 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 surfactant protein C 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 surfactant protein C 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 surfactant protein C deficiency (disorder)

\Respiratory finding\Lower respiratory tract finding\Lung finding\Disorder of lung (disorder)\Interstitial lung disease\Interstitial lung disease due to surfactant protein C 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 surfactant protein C deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Interstitial lung disease due to surfactant protein C deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Interstitial lung disease due to surfactant protein C deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Interstitial lung disease due to surfactant protein C deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Interstitial lung disease due to surfactant protein C 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 surfactant protein C 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 surfactant protein C deficiency (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Interstitial lung disease due to surfactant protein C deficiency (disorder)
\Disease\Disorder of connective tissue (disorder)\Interstitial lung disease\Interstitial lung disease due to surfactant protein C 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

5048465013 Interstitial lung disease due to surfactant protein C deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5048466014 Interstitial lung disease due to surfactant protein C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5048467017 Interstitial lung disease due to SP-C (surfactant protein C) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5048468010 A rare genetic interstitial lung disease with characteristics of diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnoea, cough, wheezing and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5048469019 A rare genetic interstitial lung disease with characteristics of diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13693641000172114 interstitiële longziekte door deficiëntie van SP-C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13693651000172111 interstitiële longziekte door deficiëntie van surfactant-eiwit C nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13693661000172113 interstitiële longaandoening door surfactanseiwit C-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 surfactant protein C deficiency (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Interstitial lung disease due to surfactant protein C deficiency (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Interstitial lung disease due to surfactant protein C deficiency (disorder)	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Interstitial lung disease due to surfactant protein C deficiency (disorder)	Finding site	Structure of interstitial tissue of lung	true	Inferred relationship	Some	1
Interstitial lung disease due to surfactant protein C 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
5048465013	Interstitial lung disease due to surfactant protein C deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5048466014	Interstitial lung disease due to surfactant protein C deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5048467017	Interstitial lung disease due to SP-C (surfactant protein C) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5048468010	A rare genetic interstitial lung disease with characteristics of diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnoea, cough, wheezing and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5048469019	A rare genetic interstitial lung disease with characteristics of diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13693641000172114	interstitiële longziekte door deficiëntie van SP-C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13693651000172111	interstitiële longziekte door deficiëntie van surfactant-eiwit C	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13693661000172113	interstitiële longaandoening door surfactanseiwit C-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)