770760006: syndrome de microdélétion 16q24.1 (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un poumon\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\constatation à propos d'un poumon\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \Respiratory finding\constatation à propos des voies respiratoires inférieures\constatation à propos d'un poumon\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \Respiratory finding\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\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\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 16 (trouble)\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.1 microdeletion syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of respiratory system (disorder)\Disorder of lower respiratory system (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\affection du poumon (trouble)\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\16q24.1 microdeletion syndrome (disorder)
• \Disease\affection du tissu conjonctif\pneumopathie interstitielle\16q24.1 microdeletion syndrome (disorder)
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\16q24.1 microdeletion syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\16q24.1 microdeletion syndrome (disorder)
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\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\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 16 (trouble)\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.1 microdeletion syndrome (disorder)
• \Disease\trouble du développement\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
1018281000172113	del(16)(q24.1)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
769871000241114	syndrome de microdélétion 16q24.1 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
975231000172115	syndrome de microdélétion 16q24.1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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