768471006: 16p12.2 microdeletion syndrome (disorder)

• SNOMED CT Concept\constatation clinique\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)\Deletion of part of short arm of chromosome 16 (disorder)\16p12.2 microdeletion syndrome (disorder)
• \anomalie du chromosome 16 (trouble)\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\16p12.2 microdeletion syndrome (disorder)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\16p12.2 microdeletion syndrome (disorder)
• \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)\Deletion of part of short arm of chromosome 16 (disorder)\16p12.2 microdeletion syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 16 (trouble)\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\16p12.2 microdeletion syndrome (disorder)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\16p12.2 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3685711016	16p12.2 microdeletion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3685712011	16p12.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3685713018	16p12.2 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3685716014	A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3685717017	A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioural problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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