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371169004: Partial monosomy (morphologic abnormality)

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

Descriptions:

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

1 descendants. Search Descendants:

Expanded Value Set

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

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