890123006: 3p25.3 deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 3\Distal monosomy 3p\3p25.3 deletion syndrome
• \Anomaly of chromosome pair 3\Deletion of part of chromosome 3\Distal monosomy 3p\3p25.3 deletion syndrome
• \Congenital disease\Congenital anomaly\3p25.3 deletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 3\Distal monosomy 3p\3p25.3 deletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Deletion of part of chromosome 3\Distal monosomy 3p\3p25.3 deletion syndrome
• \Developmental disorder\Congenital anomaly\3p25.3 deletion syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
4011205015	3p25.3 deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4011206019	3p25.3 microdeletion syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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