770666006: Non-distal trisomy 10q (disorder)

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

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\Non-distal trisomy 10q
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\Non-distal trisomy 10q
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\Non-distal trisomy 10q
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\Non-distal trisomy 10q

\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\Non-distal trisomy 10q

\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\Non-distal trisomy 10q

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

Descriptions:

Id Description Lang Type Status Case? Module

3701922019 Non-telomeric trisomy 10q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3701923012 Non-distal trisomy 10q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3701924018 Non-distal duplication 10q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3701925017 Non-distal trisomy 10q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3701773016 A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 10. Characteristics include mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (for example iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (for example septal ventricular defect), anal atresia, and cryptorchidism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

966811000172113 trisomie non distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

984481000172110 duplication non distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

949401000172110 niet-distale duplicatie 10q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

996991000172114 niet-distale trisomie 10q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Non-distal trisomy 10q	Occurrence	Congenital	true	Inferred relationship	Some	1
Non-distal trisomy 10q	Is a	10q partial trisomy syndrome	true	Inferred relationship	Some
Non-distal trisomy 10q	Finding site	Chromosome pair 10 (cell structure)	true	Inferred relationship	Some	1
Non-distal trisomy 10q	Associated morphology	Partial trisomy	true	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
3701922019	Non-telomeric trisomy 10q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701923012	Non-distal trisomy 10q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701924018	Non-distal duplication 10q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701925017	Non-distal trisomy 10q (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701773016	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 10. Characteristics include mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (for example iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (for example septal ventricular defect), anal atresia, and cryptorchidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
966811000172113	trisomie non distale 10q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
984481000172110	duplication non distale 10q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
949401000172110	niet-distale duplicatie 10q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
996991000172114	niet-distale trisomie 10q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)