880081006: 12q15 deletion 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\12q15 deletion syndrome (disorder)

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

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q15 deletion syndrome (disorder)

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q15 deletion syndrome (disorder)

\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 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q15 deletion syndrome (disorder)

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q15 deletion syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\12q15 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3994443012 12q15 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3994444018 12q15 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7688541000241116 syndrome de délétion 12q15 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
12q15 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
12q15 deletion syndrome (disorder)	Is a	Deletion of part of long arm of chromosome 12 (disorder)	true	Inferred relationship	Some
12q15 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
12q15 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
12q15 deletion syndrome (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
12q15 deletion syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
12q15 deletion syndrome (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Some	2
12q15 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
12q15 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
12q15 deletion syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
12q15 deletion syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
12q15 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.	Is a	False	12q15 deletion syndrome (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set