719575008: 15q14 microdeletion syndrome (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

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

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

\Anomaly of chromosome pair 15\Deletion of part of chromosome 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

\Anomaly of chromosome pair 15\Deletion of part of chromosome 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

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

5402155017 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402156016 15q14 microdeletion syndrome is a recently described syndrome characterised by developmental delay, short stature and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3313438012 15q14 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313439016 15q14 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3314919018 Monosomy 15q14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

940961000172113 del(15)(q14) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

999411000172118 syndrome de microdélétion 15q14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3448191001000112 Mikrodeletionssyndrom 15q14 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
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Is a	Anomaly of chromosome pair 15	false	Inferred relationship	Some
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Is a	Deletion of part of autosome	false	Inferred relationship	Some
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Occurrence	Congenital	true	Inferred relationship	Some	2
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Finding site	Chromosome pair 15	true	Inferred relationship	Some	2
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Occurrence	Congenital	false	Inferred relationship	Some	3
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Finding site	Chromosome pair 15	false	Inferred relationship	Some	3
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Is a	Deletion of part of chromosome 15 (disorder)	false	Inferred relationship	Some
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Is a	Partial deletion of long arm of chromosome 15 (disorder)	true	Inferred relationship	Some
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Occurrence	Congenital	true	Inferred relationship	Some	1
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

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