719666002: 6q terminal deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\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 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q terminal deletion syndrome (disorder)
• \Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q terminal deletion syndrome (disorder)
• \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 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q terminal deletion syndrome (disorder)
• \Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q terminal deletion 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
3317352014	6q terminal deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317353016	6q terminal deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402199014	A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402200012	A rare partial deletion of the long arm of chromosome 6 characterised by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317352014	6q terminal deletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317352014	6q terminal deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317353016	6q terminal deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317353016	6q terminal deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317354010	Syndrome marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. Isolated terminal 6q deletion syndrome is very rare with less than 20 cases being reported in the literature. The most frequent craniofacial anomalies include microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set and a characteristic downturned mouth. The most commonly described neurological features are psychomotor retardation, hypotonia and seizures. Retinal anomalies are also common. The breakpoints are located between chromosome regions 6q25.3 and 6q26, within the fragile site FRA6E.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402199014	A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402200012	A rare partial deletion of the long arm of chromosome 6 characterised by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3436111001000119	Terminales 6q-Deletion-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
905231000172110	syndrome de délétion 6q terminale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
905231000172110	syndrome de délétion 6q terminale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436111001000119	Terminales 6q-Deletion-Syndrom	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)

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