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890117001: 20p12.2 deletion syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4011190014 20p12.2 deletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4011191013 20p12.2 deletion syndrome en Synonym Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
20p12.2 deletion syndrome Is a Deletion of part of short arm of chromosome 20 true Inferred relationship Some
20p12.2 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 1
20p12.2 deletion syndrome Occurrence Congenital true Inferred relationship Some 1
20p12.2 deletion syndrome Finding site Chromosome pair 20 true Inferred relationship Some 1
20p12.2 deletion syndrome Finding site Chromosome pair 20 false Inferred relationship Some 2
20p12.2 deletion syndrome Associated morphology Deletion of short arm false Inferred relationship Some 2
20p12.2 deletion syndrome Occurrence Congenital true Inferred relationship Some 2
20p12.2 deletion syndrome Is a Congenital anomaly true Inferred relationship Some
20p12.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
20p12.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
20p12.2 deletion syndrome Finding site Short arm of chromosome true Inferred relationship Some 2
20p12.2 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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