FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

371169004: Partial monosomy (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial monosomy (morphologic abnormality) est un(e) (attribut) Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal partial deletion of long arm of chromosome 11 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2q31.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8p23.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
1q41q42 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 1q syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
8q21.11 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 10q syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 6p (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
12q14 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 4
14q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of long arm of chromosome 17 (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
syndrome de microdélétion 17q23.1q23.2 morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
19p13.12 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
19q13.11 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
syndrome de microdélétion 1p21.3 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
6p22 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Chromosome Xp11.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
20p12.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p15p16.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2p21 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2q23.1 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2q24 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
2q32q33 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
14q12 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
15q14 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
16p11.2p12.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
syndrome de microdélétion 16p13.11 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8p11.2 deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
4q21 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
5q14.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
6q25 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
6q terminal deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
monosomie distale 10p morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q21.1 microdeletion morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1q44 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
microdélétion 8q22.1 morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 5
16q24.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion 5q35 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Monosomy 9q22.3 syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Hypoparathyroidism, deafness, renal disease syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 9
8q13 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
3q13 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Chromosome Xp22.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 17q (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of chromosome 2 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 2 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of chromosome 3 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 4 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 5 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 5 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of chromosome 6 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of chromosome 7 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 8 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 9 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 10 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 11 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 12 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 13 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 14 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 15 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 16 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of chromosome 17 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 18 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 19 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of short arm of chromosome 19 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of chromosome 20 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of chromosome 21 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 22 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 3 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of short arm of chromosome 17 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of long arm of chromosome 19 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of short arm of chromosome 20 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of chromosome 1 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
20q13.33 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
17q12 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
12q15q21.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 22q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 5
Distal monosomy 7q36 syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 9p syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 17p13.3 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
9p13 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
19p13.13 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 13q syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal chromosome 18q deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal chromosome 18q deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2q33.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 3p syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 7q36 syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 15q morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1

Start Previous Page 4 of 5 End

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start