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770411000: Distal monosomy 19p13.3 (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
3700742012 Distal monosomy 19p13.3 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700744013 Distal monosomy 19p13.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404781012 Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3700742012 Distal monosomy 19p13.3 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700744013 Distal monosomy 19p13.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700743019 A rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404781012 Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435431001000114 Monosomie 19p13.3, distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879431000172111 monosomie distale 19p13.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978211000172116 délétion distale 19p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879431000172111 monosomie distale 19p13.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978211000172116 délétion distale 19p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435431001000114 Monosomie 19p13.3, distale 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
Distal monosomy 19p13.3 Finding site Short arm of chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 19p13.3 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 19p13.3 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 19p13.3 Is a Deletion of short arm of chromosome 19 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 19p13.3 Finding site Chromosome pair 19 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 19p13.3 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 19p13.3 Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 19p13.3 Finding site Chromosome pair 19 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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