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770665005: monosomie non distale 10q (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701918012 Non-distal monosomy 10q (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701919016 Non-distal deletion 10q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701920010 Non-distal monosomy 10q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701921014 Non-telomeric monosomy 10q en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
769611000241119 monosomie non distale 10q (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
897761000172112 délétion non distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
996791000172112 monosomie non distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3701772014 A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 10. The disease has a highly variable phenotype with principle characteristics of developmental delay (usually of language and speech), variable cognitive impairment, autism spectrum disorder and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Non-distal monosomy 10q (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Non-distal monosomy 10q (disorder) localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 3
Non-distal monosomy 10q (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
Non-distal monosomy 10q (disorder) est un(e) (attribut) 10q partial monosomy (disorder) true Inferred relationship Some
Non-distal monosomy 10q (disorder) localisation d'une constatation (attribut) Chromosome pair 10 (cell structure) true Inferred relationship Some 2
Non-distal monosomy 10q (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Non-distal monosomy 10q (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Non-distal monosomy 10q (disorder) localisation d'une constatation (attribut) Chromosome pair 10 (cell structure) true Inferred relationship Some 1
Non-distal monosomy 10q (disorder) morphologie associée (attribut) Deletion of long arm true Inferred relationship Some 1
Non-distal monosomy 10q (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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