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890124000: 5q22.2 deletion syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4011213019 5q22.2 deletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4011214013 5q22.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
5q22.2 deletion syndrome Is a Deletion of part of long arm of chromosome 5 true Inferred relationship Existential restriction modifier
5q22.2 deletion syndrome Is a Congenital malformation false Inferred relationship Existential restriction modifier
5q22.2 deletion syndrome Finding site Chromosome pair 5 true Inferred relationship Existential restriction modifier 1
5q22.2 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
5q22.2 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
5q22.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
5q22.2 deletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 2
5q22.2 deletion syndrome Finding site Chromosome pair 5 false Inferred relationship Existential restriction modifier 2
5q22.2 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
5q22.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
5q22.2 deletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 2
5q22.2 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
5q22.2 deletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial adenomatous polyposis due to 5q22.2 microdeletion Due to True 5q22.2 deletion syndrome Inferred relationship Existential restriction modifier 2

This concept is not in any reference sets

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