328641000119109: Genetic disorder of surfactant dysfunction (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Lung finding\Disorder of lung (disorder)\Interstitial lung disease\Genetic disorder of surfactant dysfunction

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\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\Genetic disorder of surfactant dysfunction
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Lung finding\Disorder of lung (disorder)\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\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\Genetic disorder of surfactant dysfunction
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\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\Genetic disorder of surfactant dysfunction
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of soft tissue of trunk\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of soft tissue of body cavity\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction

\General finding of soft tissue\Disorder of soft tissue\...

\Disorder of soft tissue of trunk\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction

\Disorder of soft tissue of body cavity\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction

\Respiratory finding\Lower respiratory tract finding\Lung finding\Disorder of lung (disorder)\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Genetic disorder of surfactant dysfunction

\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of lung (disorder)\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Disease\Disorder of trunk (disorder)\Disorder of soft tissue of trunk\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Disease\Disorder of trunk (disorder)\Disorder of soft tissue of body cavity\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Disease\Disorder of connective tissue (disorder)\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Disease\Disorder of soft tissue\Disorder of soft tissue of trunk\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction
\Disease\Disorder of soft tissue\Disorder of soft tissue of body cavity\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\Genetic disorder of surfactant dysfunction

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3043800010 Genetic disorder of surfactant dysfunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3044011014 Genetic disorder of surfactant dysfunction (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5604821000241118 trouble génétique des membranes hyalines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic disorder of surfactant dysfunction	Is a	Congenital anomaly of lung	false	Inferred relationship	Some
Genetic disorder of surfactant dysfunction	Due to	Genetic mutation	true	Inferred relationship	Some	2
Genetic disorder of surfactant dysfunction	Occurrence	Congenital	false	Inferred relationship	Some	2
Genetic disorder of surfactant dysfunction	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Genetic disorder of surfactant dysfunction	Finding site	Lung structure	false	Inferred relationship	Some	2
Genetic disorder of surfactant dysfunction	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Genetic disorder of surfactant dysfunction	Finding site	Lung structure	false	Inferred relationship	Some	1
Genetic disorder of surfactant dysfunction	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Genetic disorder of surfactant dysfunction	Occurrence	Congenital	false	Inferred relationship	Some	1
Genetic disorder of surfactant dysfunction	Is a	Interstitial lung disease	true	Inferred relationship	Some
Genetic disorder of surfactant dysfunction	Finding site	Structure of interstitial tissue of lung	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chronic lung disease due to surfactant disorder	Due to	True	Genetic disorder of surfactant dysfunction	Inferred relationship	Some	1
Acute respiratory distress in newborn with surfactant disorder	Is a	True	Genetic disorder of surfactant dysfunction	Inferred relationship	Some
Chronic respiratory distress with surfactant metabolism deficiency is 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.	Is a	True	Genetic disorder of surfactant dysfunction	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3043800010	Genetic disorder of surfactant dysfunction	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3044011014	Genetic disorder of surfactant dysfunction (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5604821000241118	trouble génétique des membranes hyalines	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module