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719427001: 15q11q13 microduplication 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
3316309017 15q11q13 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316310010 15q11q13 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316978017 Trisomy 15q11q13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402102011 The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402103018 The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterised by neurobehavioural disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. 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
15q11q13 microduplication syndrome (disorder) Is a 15q partial trisomy syndrome false Inferred relationship Some
15q11q13 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) Finding site Chromosome pair 15 false Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) Is a Partial duplication of long arm of chromosome 15 (disorder) true Inferred relationship Some
15q11q13 microduplication syndrome (disorder) Is a Congenital malformation true Inferred relationship Some
15q11q13 microduplication syndrome (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
15q11q13 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
15q11q13 microduplication syndrome (disorder) Finding site Chromosome pair 15 true Inferred relationship Some 2
15q11q13 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
15q11q13 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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