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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) Is a Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Deletion of part of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of chromosome 21 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of chromosome 22 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of short arm of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of long arm of chromosome 19 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of short arm of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Deletion of part of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
20q13.33 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
17q12 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
12q15q21.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 22q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 5
Distal monosomy 7q36 syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 9p syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 17p13.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
9p13 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
19p13.13 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 13q syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Proximal chromosome 18q deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal chromosome 18q deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
2q33.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 3p syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 7q36 syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 15q Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1p31p32 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Monosomy 13q34 syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion 22q11.2 (morphologic abnormality) Is a True Partial monosomy (morphologic abnormality) Inferred relationship Some
16p12.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 14q syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 19p13.3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
10q22.3q23.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Non-distal monosomy 10q (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Monosomy 13q14 syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 17p13.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p21 microdeletion syndrome without cystinuria (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p13.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
3q27.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16q24.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal 7q11.23 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 7q11.23 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 12p Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 12p Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Monosomy 9p Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Oculootodental syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Oculootodental syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
15q11.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
15q11.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
14q22q23 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 4
14q22q23 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8q22.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
8q13 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
12q14 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
20p13 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
7q31 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
7q31 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
9q31.1q31.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
13q12.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 3
14q24.1q24.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
12p12.1 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
12p12.1 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3q26q27 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Non-distal monosomy 12q Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 7p syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 20q syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
21q22.11q22.12 microdeletion syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 4q Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
21q22.11q22.12 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Williams syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Williams syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Potocki-Shaffer syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
11p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome 11p13 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Chromosome 2q37 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
14q32 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
11p15 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
12q15 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
17q11 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
3p25.3 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
5q22.2 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
7p12-p14 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
7p21.1 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
9p24.3 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
9q34 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
12q15q21.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Some 1

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