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880081006: 12q15 deletion syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3994444018 12q15 deletion syndrome en Synonym Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
12q15q21.1 microdeletion syndrome Is a False 12q15 deletion syndrome Inferred relationship Some

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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