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

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