733473000: 16p13.3 microduplication syndrome (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 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.3 microduplication syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.3 microduplication syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.3 microduplication syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.3 microduplication syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\16p13.3 microduplication syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.3 microduplication syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.3 microduplication syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\16p13.3 microduplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3499509012 Distal trisomy 16p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499510019 Distal duplication 16p en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499511015 16p13.3 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499512010 16p13.3 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3500013012 A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which includes: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (up slanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4012541000052119 16p13.3-mikroduplikationssyndromet sv Synonym (core metadata concept) Active Entire term 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
16p13.3 microduplication syndrome	Is a	partiellt trisomi 16p-syndrom	false	Inferred relationship	Some
16p13.3 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
16p13.3 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
16p13.3 microduplication syndrome	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
16p13.3 microduplication syndrome	Is a	Duplication of part of short arm of chromosome 16 (disorder)	true	Inferred relationship	Some
16p13.3 microduplication syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
16p13.3 microduplication syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
16p13.3 microduplication syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
16p13.3 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
16p13.3 microduplication syndrome	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
16p13.3 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
16p13.3 microduplication syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	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
3499509012	Distal trisomy 16p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499510019	Distal duplication 16p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499511015	16p13.3 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499512010	16p13.3 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3500013012	A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which includes: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (up slanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4012541000052119	16p13.3-mikroduplikationssyndromet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)