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1222677008: 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
5400010018 A rare genetic interstitial lung disease characterized by 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
5400011019 A rare genetic interstitial lung disease characterised by 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
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
5400010018 A rare genetic interstitial lung disease characterized by 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
5400011019 A rare genetic interstitial lung disease characterised by 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
3409861001000113 Interstitielle Lungenerkrankung durch SP-C-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409861001000113 Interstitielle Lungenerkrankung durch SP-C-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 Existential restriction modifier (core metadata concept)
Interstitial lung disease due to surfactant protein C deficiency (disorder) Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Interstitial lung disease due to surfactant protein C deficiency (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Interstitial lung disease due to surfactant protein C deficiency (disorder) Finding site Structure of interstitial tissue of lung true Inferred relationship Existential restriction modifier (core metadata concept) 1
Interstitial lung disease due to surfactant protein C deficiency (disorder) Is a Interstitial lung disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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