770760006: 16q24.1 microdeletion syndrome (disorder)

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

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3702491013	16q24.1 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3702492018	Monosomy 16q24.1	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

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