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717157006: Trisomy 10p (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308544019 Trisomy 10p (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308545018 Trisomy 10p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401490015 Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. 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
Trisomy 10p (disorder) Is a Anomaly of chromosome pair 10 false Inferred relationship Some
Trisomy 10p (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Trisomy 10p (disorder) Is a Mental retardation false Inferred relationship Some
Trisomy 10p (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
Trisomy 10p (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Trisomy 10p (disorder) Occurrence Congenital true Inferred relationship Some 3
Trisomy 10p (disorder) Finding site Limb structure true Inferred relationship Some 3
Trisomy 10p (disorder) Associated morphology Trisomy false Inferred relationship Some 4
Trisomy 10p (disorder) Occurrence Congenital false Inferred relationship Some 4
Trisomy 10p (disorder) Finding site Chromosome pair 10 (cell structure) false Inferred relationship Some 4
Trisomy 10p (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Trisomy 10p (disorder) Occurrence Congenital false Inferred relationship Some 5
Trisomy 10p (disorder) Finding site Face structure false Inferred relationship Some 5
Trisomy 10p (disorder) Is a Intellectual disability true Inferred relationship Some
Trisomy 10p (disorder) Is a Trisomy 10 (disorder) true Inferred relationship Some
Trisomy 10p (disorder) Occurrence Congenital true Inferred relationship Some 2
Trisomy 10p (disorder) Occurrence Congenital true Inferred relationship Some 1
Trisomy 10p (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trisomy 10p (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Trisomy 10p (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 1
Trisomy 10p (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Trisomy 10p (disorder) Associated morphology Trisomy true Inferred relationship Some 1
Trisomy 10p (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trisomy 10p (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Trisomy 10p (disorder) Finding site Face structure true Inferred relationship Some 2
Trisomy 10p (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Trisomy 10p (disorder) Has interpretation Impaired true Inferred relationship Some 4
Trisomy 10p (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Trisomy 10p (disorder) Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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