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880081006: 12q15 deletion syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3994443012 12q15 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3994444018 12q15 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
12q15 deletion syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
12q15 deletion syndrome (disorder) est un(e) (attribut) Deletion of part of long arm of chromosome 12 (disorder) true Inferred relationship Some
12q15 deletion syndrome (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
12q15 deletion syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
12q15 deletion syndrome (disorder) localisation d'une constatation (attribut) Chromosome pair 12 (cell structure) true Inferred relationship Some 1
12q15 deletion syndrome (disorder) morphologie associée (attribut) Deletion of long arm false Inferred relationship Some 2
12q15 deletion syndrome (disorder) localisation d'une constatation (attribut) Chromosome pair 12 (cell structure) false Inferred relationship Some 2
12q15 deletion syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
12q15 deletion syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
12q15 deletion syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
12q15 deletion syndrome (disorder) localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 2
12q15 deletion syndrome (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
12q15q21.1 microdeletion syndrome (disorder) est un(e) (attribut) False 12q15 deletion syndrome (disorder) Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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