890123006: 3p25.3 deletion syndrome (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 3 (disorder)\Distal monosomy 3p syndrome\3p25.3 deletion syndrome (disorder)
• \Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\Distal monosomy 3p syndrome\3p25.3 deletion syndrome (disorder)
• \Congenital disease\Congenital malformation\3p25.3 deletion syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 3 (disorder)\Distal monosomy 3p syndrome\3p25.3 deletion syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\Distal monosomy 3p syndrome\3p25.3 deletion syndrome (disorder)
• \trouble du développement\Congenital malformation\3p25.3 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
4011203010	3p25.3 deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4011205015	3p25.3 deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4011206019	3p25.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4011204016	3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4011207011	3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterised by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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