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719597005: 19p13.12 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3317083016 19p13.12 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317084010 19p13.12 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317085011 Monosomy 19p13.12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402172012 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402173019 19p13.12 microdeletion syndrome is a newly described syndrome characterised by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317083016 19p13.12 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317083016 19p13.12 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317083016 19p13.12 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317084010 19p13.12 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317084010 19p13.12 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317084010 19p13.12 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317085011 Monosomy 19p13.12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317085011 Monosomy 19p13.12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317085011 Monosomy 19p13.12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317086012 A newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behavior characterized by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridization microarray and its size is variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317087015 A newly described syndrome characterised by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behaviour characterised by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridisation microarray and its size is variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402172012 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402173019 19p13.12 microdeletion syndrome is a newly described syndrome characterised by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3408101001000112 Mikrodeletionssyndrom 19p13.12 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
899931000172113 syndrome de microdélétion 19p13.12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970271000172112 del(19)(p13.12) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
899931000172113 syndrome de microdélétion 19p13.12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970271000172112 del(19)(p13.12) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3408101001000112 Mikrodeletionssyndrom 19p13.12 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
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a Anomaly of chromosome pair 19 false Inferred relationship Existential restriction modifier (core metadata concept)
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Finding site Chromosome pair 19 true Inferred relationship Existential restriction modifier (core metadata concept) 2
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept) 3
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Finding site Chromosome pair 19 false Inferred relationship Existential restriction modifier (core metadata concept) 3
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a Deletion of part of chromosome 19 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a Deletion of short arm of chromosome 19 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier (core metadata concept) 1
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Finding site Short arm of chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 1
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Finding site Chromosome pair 19 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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