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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3757986018 Chronic respiratory distress with surfactant metabolism deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3757985019 Chronic respiratory distress with surfactant metabolism deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757986018 Chronic respiratory distress with surfactant metabolism deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3443741001000113 Chronische Atemnot mit Stoffwechseldefekt des Surfactant-Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591361000241113 détresse respiratoire chronique avec déficit du métabolisme des membranes hyalines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5591361000241113 détresse respiratoire chronique avec déficit du métabolisme des membranes hyalines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443741001000113 Chronische Atemnot mit Stoffwechseldefekt des Surfactant-Systems 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
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a Genetic disorder of surfactant dysfunction (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a Chronic disease of respiratory system false Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a Respiratory distress (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Due to Genetic mutation (finding) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Finding site Structure of interstitial tissue of lung true Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Interprets General clinical state (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Interprets Ease of respiration (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Chronic respiratory distress with surfactant metabolism deficiency (disorder) Is a Chronic lung disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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