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770665005: Non-distal monosomy 10q (disorder)

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
5404864012 Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders 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
5404865013 Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterised by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioural abnormalities such as autism spectrum disorders 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
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
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
5404864012 Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders 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
5404865013 Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterised by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioural abnormalities such as autism spectrum disorders 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
3431511001000119 Monosomie 10q, nicht-distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
897761000172112 délétion non distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
996791000172112 monosomie non distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
897761000172112 délétion non distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
996791000172112 monosomie non distale 10q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431511001000119 Monosomie 10q, nicht-distale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Non-distal monosomy 10q (disorder) Is a 10q partial monosomy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Non-distal monosomy 10q (disorder) Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-distal monosomy 10q (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-distal monosomy 10q (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal monosomy 10q (disorder) Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal monosomy 10q (disorder) Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal monosomy 10q (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-distal monosomy 10q (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Non-distal monosomy 10q (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Non-distal monosomy 10q (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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