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371169004: Partial monosomy (morphologic abnormality)

Status: current, Primitive. 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 Case insensitive SNOMED CT core
1209870015 Partial monosomy en Synonym Active Case insensitive SNOMED CT core

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
14q22q23 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 4
14q22q23 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
8q22.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
8q13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
12q14 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
14q11.2 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
20p13 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
7q31 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
7q31 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
9q31.1q31.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
13q12.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 3
14q24.1q24.3 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
12p12.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
12p12.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
3q26q27 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Non-distal monosomy 12q Associated morphology True Partial monosomy Inferred relationship Some 1
Distal monosomy 7p syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 1
Distal monosomy 20q Associated morphology False Partial monosomy Inferred relationship Some 1
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 2
21q22.11q22.12 microdeletion syndrome Associated morphology False Partial monosomy Inferred relationship Some 2
Distal monosomy 4q Associated morphology True Partial monosomy Inferred relationship Some 1
21q22.11q22.12 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 1
Williams syndrome Associated morphology True Partial monosomy Inferred relationship Some 2
Williams syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Potocki-Shaffer syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
11p partial monosomy syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
WAGR syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Chromosome 2q37 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
14q32 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
11p15 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
12q15 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
17q11 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
20p12.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
3p25.3 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
5q22.2 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
7p12-p14 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
7p21.1 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
9p24.3 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
9q34 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
7p partial monosomy Associated morphology True Partial monosomy Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus Associated morphology True Partial monosomy Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
12q15q21.1 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of chromosome 21 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 3
Distal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of short arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 1
Distal deletion of short arm of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Some 1
Paternal 14q32.2 microdeletion Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of long arm of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 3
Maternal 15q11q13 deletion Associated morphology False Partial monosomy Inferred relationship Some 1
Medial deletion of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Some 1
Medial deletion of long arm of chromosome 4 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of short arm of chromosome 18 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of long arm of chromosome 18 Associated morphology True Partial monosomy Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Some 1
6q16 microdeletion syndrome Associated morphology True Partial monosomy Inferred relationship Some 6
Proximal deletion of long arm of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 9 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy Inferred relationship Some 3
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 4 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 18 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 2 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 17 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of chromosome 13 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of chromosome 21 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of chromosome 14 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of chromosome 15 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of short arm of chromosome 8 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of long arm of chromosome 11 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of short arm of chromosome 6 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy Inferred relationship Some 1
Proximal deletion of short arm of chromosome 3 Associated morphology True Partial monosomy Inferred relationship Some 1

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Reference Sets

Body structure foundation reference set

Description inactivation indicator reference set

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