764996009: Non-distal trisomy 13q (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 13\13q partial trisomy syndrome\Non-distal trisomy 13q
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q

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

3655994013 Non-distal trisomy 13q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3655995014 Non-distal duplication 13q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3655996010 Non-distal trisomy 13q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3655997018 Non-telomeric trisomy 13q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3656002014 A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3656003016 A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

1003681000172119 duplication non distale 13q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1013761000172117 trisomie non distale 13q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

886051000172111 niet-distale duplicatie 13q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

891021000172112 niet-distale trisomie 13q 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 13q	Is a	13q partial trisomy syndrome	true	Inferred relationship	Some
Non-distal trisomy 13q	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Non-distal trisomy 13q	Occurrence	Congenital	true	Inferred relationship	Some	1
Non-distal trisomy 13q	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3655994013	Non-distal trisomy 13q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655995014	Non-distal duplication 13q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655996010	Non-distal trisomy 13q (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655997018	Non-telomeric trisomy 13q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3656002014	A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656003016	A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1003681000172119	duplication non distale 13q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1013761000172117	trisomie non distale 13q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
886051000172111	niet-distale duplicatie 13q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
891021000172112	niet-distale trisomie 13q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)