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719686003: Distal monosomy 10p (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3317485019 Distal monosomy 10p (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317486018 Distal monosomy 10p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317487010 Distal 10p deletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317488017 Telomeric deletion 10p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402204015 Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. 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
Distal monosomy 10p (disorder) Is a 10p partial monosomy syndrome true Inferred relationship Some
Distal monosomy 10p (disorder) Occurrence Congenital true Inferred relationship Some 2
Distal monosomy 10p (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 2
Distal monosomy 10p (disorder) Occurrence Congenital true Inferred relationship Some 3
Distal monosomy 10p (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 3
Distal monosomy 10p (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Distal monosomy 10p (disorder) Associated morphology Deletion of short arm true Inferred relationship Some 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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