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721881008: Microduplication Xp11.22p11.23 syndrome (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
3326431011 Microduplication Xp11.22p11.23 syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326432016 Microduplication Xp11.22p11.23 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3326436018 Trisomy Xp11.22-p11.23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402729013 Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. 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
Microduplication Xp11.22p11.23 syndrome (disorder) Is a Anomaly of chromosome X true Inferred relationship Some
Microduplication Xp11.22p11.23 syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome (disorder) Finding site Sex chromosome X false Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microduplication Xp11.22p11.23 syndrome (disorder) Finding site Short arm of chromosome true Inferred relationship Some 1
Microduplication Xp11.22p11.23 syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Microduplication Xp11.22p11.23 syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Microduplication Xp11.22p11.23 syndrome (disorder) Finding site Sex chromosome X true Inferred relationship Some 2
Microduplication Xp11.22p11.23 syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Microduplication Xp11.22p11.23 syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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