770760006: 16q24.1 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Lung finding\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \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\16q24.1 microdeletion syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Lung finding\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \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\16q24.1 microdeletion syndrome (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \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\16q24.1 microdeletion syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of soft tissue of trunk\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \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\16q24.1 microdeletion syndrome (disorder)
• \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\16q24.1 microdeletion syndrome (disorder)
• \Disorder of soft tissue of body cavity\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Respiratory finding\Lower respiratory tract finding\Lung finding\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Respiratory finding\Disorder of respiratory system\Disease of lower respiratory system\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Respiratory finding\Disorder of respiratory system\Respiratory condition of fetus OR newborn\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Respiratory condition of fetus OR newborn\16q24.1 microdeletion syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.1 microdeletion syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of respiratory system\Disease of lower respiratory system\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of respiratory system\Respiratory condition of fetus OR newborn\16q24.1 microdeletion syndrome (disorder)
• \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\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disease of lung (disorder)\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of soft tissue of trunk\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of soft tissue of body cavity\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of connective tissue\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of trunk\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of body cavity\Disorder of soft tissue of thoracic cavity\Interstitial lung disease\16q24.1 microdeletion syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\16q24.1 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702490014	16q24.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702491013	16q24.1 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702492018	Monosomy 16q24.1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404921018	A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404922013	A partial autosomal monosomy characterised clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702490014	16q24.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702491013	16q24.1 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702492018	Monosomy 16q24.1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702493011	A partial autosomal monosomy with clinical characteristics of lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404921018	A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404922013	A partial autosomal monosomy characterised clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3420631001000116	Mikrodeletionssyndrom 16q24.1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
975231000172115	syndrome de microdélétion 16q24.1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018281000172113	del(16)(q24.1)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
975231000172115	syndrome de microdélétion 16q24.1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018281000172113	del(16)(q24.1)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420631001000116	Mikrodeletionssyndrom 16q24.1	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

Back to Start