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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
Distal monosomy 15q morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
1p31p32 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Monosomy 13q34 syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Deletion 22q11.2 (morphologic abnormality) est un(e) (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some
16p12.2 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) morphologie associée (attribut) False Partial monosomy (morphologic abnormality) Inferred relationship Some 3
Distal monosomy 14q syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 19p13.3 (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
10q22.3q23.3 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Non-distal monosomy 10q (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Monosomy 13q14 syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 17p13.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p21 microdeletion syndrome without cystinuria (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
2p13.2 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
3q27.3 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
16q24.1 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal 7q11.23 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal 7q11.23 microdeletion syndrome (disorder) morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Distal monosomy 12p morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Distal monosomy 12p morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Monosomy 9p morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
Oculootodental syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
Oculootodental syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2
15q11.2 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 1
15q11.2 microdeletion syndrome morphologie associée (attribut) True Partial monosomy (morphologic abnormality) Inferred relationship Some 2

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