764459008: syndroom van distale trisomie 16q (aandoening)

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

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

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal trisomy 16q (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)\Distal trisomy 16q (disorder)
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)\Distal trisomy 16q (disorder)

\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 long arm of chromosome 16 (disorder)\Distal trisomy 16q (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)\Distal trisomy 16q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)\Distal trisomy 16q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)\Distal trisomy 16q (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Distal trisomy 16q (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3650165015 Distal duplication 16q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650166019 Telomeric duplication 16q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650167011 Distal trisomy 16q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3650168018 Distal trisomy 16q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7967441000146117 distale trisomie van lange arm van chromosoom 16 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7967451000146119 syndroom van distale trisomie 16q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7967461000146116 distale trisomie 161q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7967471000146110 syndroom van distale trisomie 16q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7968091000146116 telomerische duplicatie 16q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3649872018 A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 16 with variable phenotype. Principle characteristics are developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. 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
Distal trisomy 16q (disorder)	Is a	syndroom van partiële trisomie 16q	false	Inferred relationship	Some
Distal trisomy 16q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 16q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 16q (disorder)	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
Distal trisomy 16q (disorder)	Is a	Duplication of part of long arm of chromosome 16 (disorder)	true	Inferred relationship	Some
Distal trisomy 16q (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Distal trisomy 16q (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Distal trisomy 16q (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal trisomy 16q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal trisomy 16q (disorder)	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
Distal trisomy 16q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 16q (disorder)	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
3650165015	Distal duplication 16q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650166019	Telomeric duplication 16q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650167011	Distal trisomy 16q (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650168018	Distal trisomy 16q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7967441000146117	distale trisomie van lange arm van chromosoom 16	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967451000146119	syndroom van distale trisomie 16q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967461000146116	distale trisomie 161q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7967471000146110	syndroom van distale trisomie 16q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7968091000146116	telomerische duplicatie 16q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3649872018	A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 16 with variable phenotype. Principle characteristics are developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core