733473000: syndrome de microduplication 16p13.3 (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\anomalie chromosomique\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
\anomalie chromosomique\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
\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 16 (trouble)\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.3 microduplication syndrome
\anomalie chromosomique\maladie chromosomique congénitale\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\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\16p13.3 microduplication syndrome
\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 16 (trouble)\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16 (disorder)\16p13.3 microduplication syndrome
\Congenital disease\maladie chromosomique congénitale\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

\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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

763161000241112 syndrome de microduplication 16p13.3 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

909161000172111 syndrome de microduplication 16p13.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

944961000172115 dup(16)(p13.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
16p13.3 microduplication syndrome	est un(e) (attribut)	Duplication of part of short arm of chromosome 16 (disorder)	true	Inferred relationship	Some
16p13.3 microduplication syndrome	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
16p13.3 microduplication syndrome	localisation d'une constatation (attribut)	Short arm of chromosome (cell structure)	true	Inferred relationship	Some	1
16p13.3 microduplication syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
16p13.3 microduplication syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
16p13.3 microduplication syndrome	localisation d'une constatation (attribut)	Chromosome pair 16 (cell structure)	true	Inferred relationship	Some	2
16p13.3 microduplication syndrome	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	2
16p13.3 microduplication syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
16p13.3 microduplication syndrome	est un(e) (attribut)	16p partial trisomy syndrome	false	Inferred relationship	Some
16p13.3 microduplication syndrome	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	1
16p13.3 microduplication syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
16p13.3 microduplication syndrome	localisation d'une constatation (attribut)	Chromosome pair 16 (cell structure)	false	Inferred relationship	Some	1

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
763161000241112	syndrome de microduplication 16p13.3 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
909161000172111	syndrome de microduplication 16p13.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
944961000172115	dup(16)(p13.3)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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