FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

133849008: Partial trisomy (morphologic abnormality)

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
213572013 Partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
738589017 Partial trisomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial trisomy Is a Trisomy true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
3p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
6p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
14q partial distal trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
2p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
20q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
5p partial trisomy Associated morphology True Partial trisomy Inferred relationship Some 1
8q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
18p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
9q partial trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
12p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
14q partial proximal trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
14q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
9p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
13q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
12q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
18q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
19q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
16q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
2q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
4p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
7p partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
1q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
7q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
3q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
13p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
11q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
6q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
4q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
10p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
11p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
20p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
8p partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
16p partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
22q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
10q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
15q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Some 1
17q21.31 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Trisomy 17p (disorder) Associated morphology False Partial trisomy Inferred relationship Some 2
Chromosome 3q29 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 10q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
16p13.11 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
17q11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
5q35 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
8q12 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Chromosome Xq28 trisomy Associated morphology False Partial trisomy Inferred relationship Some 2
17p13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 6p syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) Associated morphology False Partial trisomy Inferred relationship Some 5
4p16.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
7q11.23 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 3
Partial trisomy of chromosome 2 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 4 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of long arm of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy of long arm of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Some 3
Partial trisomy of chromosome 6 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 7 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 10 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 11 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 12 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 13 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 14 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 18 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 19 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of short arm of chromosome 19 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Partial trisomy of short arm of chromosome 19 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 3
Partial trisomy of chromosome 20 (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 21 Associated morphology True Partial trisomy Inferred relationship Some 1
Partial trisomy of chromosome 22 Associated morphology True Partial trisomy Inferred relationship Some 1
16p13.3 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
16p11.2p12.2 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
17p11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
5q35 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
20q11.2 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 2q Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 4q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 5q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 6q Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 7p syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 8q Associated morphology True Partial trisomy Inferred relationship Some 1
17q12 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Some 2
Distal trisomy 11q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 13q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 16q (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 20q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 22q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 2p Associated morphology True Partial trisomy Inferred relationship Some 1
Distal trisomy 3p (disorder) Associated morphology True Partial trisomy Inferred relationship Some 1

Page 1 of 3 Next End

This concept is not in any reference sets

Back to Start