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783182004: Chronic respiratory distress with surfactant metabolism deficiency (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757985019 Chronic respiratory distress with surfactant metabolism deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3757986018 Chronic respiratory distress with surfactant metabolism deficiency en Synonym Active Case insensitive SNOMED CT core
3757987010 A rare genetic primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. There is evidence that the disease is caused by heterozygous mutation in the gene encoding surfactant protein C (SFTPC) on chromosome 8p21. en Definition Active Case sensitive SNOMED CT core
3757988017 A rare genetic primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnoea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. There is evidence that the disease is caused by heterozygous mutation in the gene encoding surfactant protein C (SFTPC) on chromosome 8p21. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chronic respiratory distress with surfactant metabolism deficiency Is a Inherited disorder of connective tissue true Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency Is a Genetic disorder of surfactant dysfunction true Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency Is a Chronic disease of respiratory system false Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency Is a Respiratory distress true Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency Is a Hereditary disorder by system true Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency Due to Genetic mutation true Inferred relationship Some 4
Chronic respiratory distress with surfactant metabolism deficiency Finding site Structure of interstitial tissue of lung true Inferred relationship Some 2
Chronic respiratory distress with surfactant metabolism deficiency Interprets General clinical state true Inferred relationship Some 5
Chronic respiratory distress with surfactant metabolism deficiency Clinical course Chronic true Inferred relationship Some 1
Chronic respiratory distress with surfactant metabolism deficiency Interprets Ease of respiration true Inferred relationship Some 3
Chronic respiratory distress with surfactant metabolism deficiency Is a Chronic lung disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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