782676009: syndroom van distale trisomie 18q (aandoening)

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

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Distal trisomy 18q

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Distal trisomy 18q

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Distal trisomy 18q
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Distal trisomy 18q
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Distal trisomy 18q
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome\Distal trisomy 18q

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 18q	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 18q	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 18q	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 18q	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal trisomy 18q	Is a	18q partial trisomy syndrome	true	Inferred relationship	Some
Distal trisomy 18q	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Distal trisomy 18q	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3755114012	Distal duplication 18q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755115013	Telomeric duplication 18q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755116014	Distal trisomy 18q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755117017	Distal trisomy 18q (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7967591000146110	syndroom van distale trisomie 18q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967601000146117	syndroom van distale trisomie 18q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967611000146115	distale trisomie 18q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967631000146110	distale trisomie van lange arm van chromosoom 18	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968131000146118	telomerische duplicatie 18q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3755118010	A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core