890110004: syndroom van 17q23.1-q23.2-duplicatie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\17q23.1-q23.2 duplication syndrome

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\17q23.1-q23.2 duplication syndrome

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\17q23.1-q23.2 duplication syndrome

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 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\17q23.1-q23.2 duplication syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\17q23.1-q23.2 duplication syndrome

\Developmental disorder\Developmental hereditary disorder\17q23.1-q23.2 duplication syndrome
\Developmental disorder\Congenital malformation\17q23.1-q23.2 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

4008407010 17q23.1-q23.2 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4008408017 17q23.1-q23.2 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

12209221000146116 syndroom van 17q23.1-q23.2-duplicatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12209231000146119 17q23.1-q23.2-duplicatiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12209241000146110 syndroom van 17q23.1-q23.2-duplicatie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17q23.1-q23.2 duplication syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Is a	17q partial trisomy syndrome	true	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
17q23.1-q23.2 duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
17q23.1-q23.2 duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
17q23.1-q23.2 duplication syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Some	2
17q23.1-q23.2 duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
17q23.1-q23.2 duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
17q23.1-q23.2 duplication syndrome	Is a	Congenital malformation	true	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
17q23.1-q23.2 duplication syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
17q23.1-q23.2 duplication syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets