782676009: Distal trisomy 18q (disorder)

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

\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

\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

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

Descriptions:

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

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

4363541000052112 distalt trisomi 18q-syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

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This concept is not in any reference sets