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 monosomy 17q (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
17q12 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
17q11 deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of short arm of chromosome 12 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
12q14 microdeletion syndrome (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 1
Non-distal monosomy 12q morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
12q15 deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal deletion of long arm of chromosome 12 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 12 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 15 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 15q 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 1
15q13.3 microdeletion morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
15q13.3 microdeletion morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
15q24 microdeletion morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
15q24 microdeletion morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Partial deletion of long arm of chromosome 16 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
16q24.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
16q24.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 16 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome 2q37 deletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q23.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q24 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q24 microdeletion syndrome (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 1
2q31.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal deletion of long arm of chromosome 2 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Medial deletion of long arm of chromosome 2 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Proximal deletion of long arm of chromosome 2 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q33.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q32q33 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2q32q33 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2p13.2 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2p15p16.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p15p16.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2p21 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p21 microdeletion syndrome (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 1
13q partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Monosomy 13q14 syndrome 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 2
Monosomy 13q34 syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
13q12.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of long arm of chromosome 13 morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
1p35.2 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1p35.2 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
9q33.3q34.11 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p13.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16p13.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
17q24.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
17q24.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
9q21.13 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
11q22.2q22.3 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8q24.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q partial monosomy morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
11q partial monosomy syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q partial monosomy morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some
11q partial monosomy syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some
10p partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
12p partial monosomy syndrome morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1p partial monosomy morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3p partial monosomy syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7q partial monosomy morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
21q partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
10q partial monosomy (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1q partial monosomy morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
4p partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
9p partial monosomy syndrome morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
18q partial monosomy syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
15q partial monosomy syndrome morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
8q partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7p partial monosomy (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Chromosome 1p36 deletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
4q partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
22q partial monosomy (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
18p partial monosomy syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7q partial monosomy morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16q partial monosomy syndrome morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
9q partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5p partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
13q partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
11q partial monosomy syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
8p partial monosomy syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
9q22.3 deletion syndrome morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal partial deletion of long arm of chromosome 11 (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal partial deletion of long arm of chromosome 11 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 3

Start Previous Page 3 of 5 Next End

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start