FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

64329008: Deletion of long arm (morphologic abnormality)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
106929012 Deletion of long arm en Synonym Active Case insensitive SNOMED CT core
803710013 Deletion of long arm (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of long arm Is a Alteration of chromosome structure true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
8q13 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 2
12q14 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
8q22.1 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 1
14q11.2 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Associated morphology True Deletion of long arm Inferred relationship Some 2
9q31.1q31.3 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 3
13q12.3 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
14q24.1q24.3 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 3
3q26q27 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 1
Non-distal monosomy 12q Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal monosomy 20q Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal monosomy 4q Associated morphology True Deletion of long arm Inferred relationship Some 2
21q22.11q22.12 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 2
Choroideraemia with deafness and obesity syndrome Associated morphology False Deletion of long arm Inferred relationship Some 5
Chromosome 2q37 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
14q32 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
12q15 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
17q11 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
5q22.2 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
9q34 deletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus Associated morphology False Deletion of long arm Inferred relationship Some 4
12q24.31-q24.32 deletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
12q15q21.1 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 16 Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 12 Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 2 Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 3 Associated morphology False Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 8 Associated morphology True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 9 Associated morphology True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 6 Associated morphology True Deletion of long arm Inferred relationship Some 2
Distal deletion of long arm of chromosome 7 Associated morphology False Deletion of long arm Inferred relationship Some 2
Paternal 14q32.2 microdeletion Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Some 3
Medial deletion of long arm of chromosome 9 Associated morphology True Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 9 Associated morphology True Deletion of long arm Inferred relationship Some 3
Medial deletion of long arm of chromosome 7 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 2 Associated morphology True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 4 Associated morphology True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 Associated morphology True Deletion of long arm Inferred relationship Some 2
Medial duplication of long arm of chromosome 5 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 5 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 2 Associated morphology False Deletion of long arm Inferred relationship Some 2
Medial deletion of long arm of chromosome 4 Associated morphology True Deletion of long arm Inferred relationship Some 3
Medial duplication of long arm of chromosome 9 Associated morphology True Deletion of long arm Inferred relationship Some 2
Deletion of long arm of chromosome 18 Associated morphology True Deletion of long arm Inferred relationship Some 2
Deletion of long arm of chromosome 13 Associated morphology False Deletion of long arm Inferred relationship Some 2
6q16 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 8 Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 9 Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 7 Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 5 Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 6 Associated morphology True Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 4 Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 3 Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 18 Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 2 Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 16 Associated morphology False Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 10 Associated morphology True Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 1 Associated morphology False Deletion of long arm Inferred relationship Some 3
Proximal deletion of long arm of chromosome 12 Associated morphology False Deletion of long arm Inferred relationship Some 2
Proximal deletion of long arm of chromosome 11 Associated morphology True Deletion of long arm Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 3
9q21.13 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 4
11q22.2q22.3 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 3
8q24.3 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 4
4q25 proximal deletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 4
8q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Some
Microdeletion of chromosome 15q13.3 Associated morphology False Deletion of long arm Inferred relationship Some 2
1q21.1 microdeletion Associated morphology False Deletion of long arm Inferred relationship Some
21q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Some 1
10q partial monosomy Associated morphology False Deletion of long arm Inferred relationship Some 2
1q partial monosomy Associated morphology False Deletion of long arm Inferred relationship Some 2
18q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Some 1
15q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
8q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Some 1
4q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Some 2
22q partial monosomy Associated morphology False Deletion of long arm Inferred relationship Some 1
7q partial monosomy Associated morphology False Deletion of long arm Inferred relationship Some 2
16q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
9q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Some 1
13q partial monosomy syndrome Associated morphology False Deletion of long arm Inferred relationship Some 1
11q partial monosomy syndrome Associated morphology True Deletion of long arm Inferred relationship Some 2
Jacobsen syndrome Associated morphology True Deletion of long arm Inferred relationship Some 2
2q31.1 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 3
1q41q42 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
3q29 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
8q21.11 microdeletion syndrome Associated morphology True Deletion of long arm Inferred relationship Some 2
Distal monosomy 10q syndrome Associated morphology False Deletion of long arm Inferred relationship Some 3
12q14 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 5
14q11.2 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 4
Distal monosomy 17q Associated morphology False Deletion of long arm Inferred relationship Some 2
17q23.1q23.2 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
19q13.11 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 3
2q23.1 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
2q24 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
2q32q33 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 2
14q12 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 3
15q14 microdeletion syndrome Associated morphology False Deletion of long arm Inferred relationship Some 3

Page 1 of 2 End


Reference Sets

Body structure foundation reference set

Back to Start