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880086001: 12q24.31-q24.32 deletion syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4009247014 12q24.31-q24.32 deletion syndrome en Synonym Active Case insensitive SNOMED CT core
4009248016 12q24.31-q24.32 deletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
12q24.31-q24.32 deletion syndrome Occurrence Congenital true Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Is a Deletion of part of long arm of chromosome 12 true Inferred relationship Some
12q24.31-q24.32 deletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
12q24.31-q24.32 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Finding site Chromosome pair 12 true Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Associated morphology Deletion of long arm false Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Finding site Chromosome pair 12 false Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Occurrence Congenital true Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Finding site Long arm of chromosome true Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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