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


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
5048466014 Interstitial lung disease due to surfactant protein C deficiency en Synonym Active Initial character case insensitive SNOMED CT core
5048467017 Interstitial lung disease due to SP-C (surfactant protein C) deficiency en Synonym Active Initial character case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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