719580004: 16q24.3 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\...

\Congenital malformation\16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum 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 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16\16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

\Developmental disorder (disorder)\Congenital malformation\16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum 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

3316989012 16q24.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316990015 16q24.3 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316991016 Monosomy 16q24.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402163016 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3316989012 16q24.3 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3316989012 16q24.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316990015 16q24.3 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3316990015 16q24.3 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316991016 Monosomy 16q24.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3316991016 Monosomy 16q24.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316992011 A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402163016 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3392151001000115 Mikrodeletionssyndrom 16q24.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

911101000172112 del(16)(q24.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

969921000172116 syndrome de microdélétion 16q24.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

911101000172112 del(16)(q24.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

969921000172116 syndrome de microdélétion 16q24.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3392151001000115 Mikrodeletionssyndrom 16q24.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Is a	16q partial monosomy syndrome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Finding site	Chromosome pair 16 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Finding site	Chromosome pair 16 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Is a	Partial deletion of long arm of chromosome 16	true	Inferred relationship	Existential restriction modifier (core metadata concept)
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

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