FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.4-SNAPSHOT | FHIR Version n/a User: [n/a]

890116005: 17q24-qter duplication syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\...

\Congenital malformation\17q24-qter duplication syndrome

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17 (disorder)\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q\17q24-qter duplication syndrome
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q\17q24-qter duplication syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q\17q24-qter duplication syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q\17q24-qter duplication syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17 (disorder)\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q\17q24-qter duplication syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q\17q24-qter duplication syndrome

\Developmental disorder (disorder)\Congenital malformation\17q24-qter duplication syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

4011117011 17q24-qter duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4011118018 17q24-qter duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4011117011 17q24-qter duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4011118018 17q24-qter duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17q24-qter duplication syndrome	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
17q24-qter duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
17q24-qter duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
17q24-qter duplication syndrome	Finding site	Chromosome pair 17 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
17q24-qter duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
17q24-qter duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
17q24-qter duplication syndrome	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
17q24-qter duplication syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
17q24-qter duplication syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
17q24-qter duplication syndrome	Is a	Distal trisomy 17q	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
4011117011	17q24-qter duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4011118018	17q24-qter duplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4011117011	17q24-qter duplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4011118018	17q24-qter duplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core