FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.21 | FHIR Version n/a User: [n/a]

890117001: 20p12.2 deletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 20\Deletion of part of short arm of chromosome 20\20p12.2 deletion syndrome

\Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of short arm of chromosome 20\20p12.2 deletion syndrome

\Congenital disease\Congenital malformation\20p12.2 deletion syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 20\Deletion of part of short arm of chromosome 20\20p12.2 deletion syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of short arm of chromosome 20\20p12.2 deletion syndrome

\Developmental disorder\Congenital malformation\20p12.2 deletion syndrome

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

4011190014 20p12.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4011191013 20p12.2 deletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
20p12.2 deletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
20p12.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
20p12.2 deletion syndrome	Finding site	Chromosome pair 20	true	Inferred relationship	Existential restriction modifier	1
20p12.2 deletion syndrome	Finding site	Chromosome pair 20	false	Inferred relationship	Existential restriction modifier	2
20p12.2 deletion syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Existential restriction modifier	2
20p12.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
20p12.2 deletion syndrome	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier
20p12.2 deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
20p12.2 deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
20p12.2 deletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	2
20p12.2 deletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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