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270521004: Trisomy and partial trisomy of autosome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
405160017 Trisomy and partial trisomy of autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
663157011 Trisomy and partial trisomy of autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


231 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trisomy and partial trisomy of autosome est un(e) (attribut) Autosomal duplication (disorder) true Inferred relationship Some
Trisomy and partial trisomy of autosome localisation d'une constatation (attribut) Chromosome structure (cell structure) false Inferred relationship Some 1
Trisomy and partial trisomy of autosome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Trisomy and partial trisomy of autosome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
Trisomy and partial trisomy of autosome localisation d'une constatation (attribut) Chromosome structure (cell structure) false Inferred relationship Some 1
Trisomy and partial trisomy of autosome survenue (attribut) congénital true Inferred relationship Some 1
Trisomy and partial trisomy of autosome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Trisomy and partial trisomy of autosome localisation d'une constatation (attribut) Chromosome structure (cell structure) true Inferred relationship Some 1
Trisomy and partial trisomy of autosome morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
Trisomy and partial trisomy of autosome survenue (attribut) congénital false Inferred relationship Some
Trisomy and partial trisomy of autosome est un(e) (attribut) maladie chromosomique congénitale true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Mosaic trisomy 1 syndrome est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
12p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
20q partial trisomy (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 13 syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 14 syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
9q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
11p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
13q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
7q partial trisomy (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
12q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
syndrome de Down (trouble) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
18p partial trisomy syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
16q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
11q partial trisomy syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
10p partial trisomy syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
17q partial trisomy syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
4p partial trisomy syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
22q partial trisomy (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 18 syndrome (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
17p partial trisomy syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 20 syndrome (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
13p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
2p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Major partial trisomy est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Minor partial trisomy est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Extra marker chromosomes est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
2q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
18q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
15q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
10q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
5p partial trisomy est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
14q partial trisomy (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
19q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
6q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 16 syndrome est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
3p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
9p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
8p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
1q partial trisomy syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
7p partial trisomy (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
6p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
16p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
4q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
3q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy syndrome est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 6 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 7 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 8 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 9 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 10 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 11 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 12 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 22 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy, meiotic nondisjunction (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy, mosaicism est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy syndromes est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 13 syndrome est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 21- mitotic nondisjunction mosaicism est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Other trisomy C syndromes est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Other specified whole chromosome trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy syndrome NOS est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomies of autosomes NEC est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
[X]Other specified trisomies and partial trisomies of autosomes est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
8q partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
20p partial trisomy syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Trisomy 10p (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Mosaic trisomy 8 syndrome (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Chromosome 3q29 duplication syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Complete trisomy 8 syndrome est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
5q35 microduplication syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Chromosome Xq28 trisomy (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Distal trisomy 6p syndrome (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 1 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 2 (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 3 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 4 (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 5 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 6 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 7 (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 8 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 9 (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 10 (disorder) est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 11 (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 12 est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 13 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 14 (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 15 (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 16 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 17 (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 18 (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 19 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
trisomie partielle du chromosome 20 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 21 est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy of chromosome 22 est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Unbalanced translocation and insertion est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy 21 in Down's syndrome est un(e) (attribut) False Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy 18 in Edward's syndrome est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Partial trisomy 13 in Patau's syndrome est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy meiotic nondisjunction (disorder) est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some
Whole chromosome trisomy - mitotic nondisjunction mosaicism est un(e) (attribut) True Trisomy and partial trisomy of autosome Inferred relationship Some

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