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890123006: 3p25.3 deletion syndrome (disorder)

Status: current. Date: 30-Jan 2021

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
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
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
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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3p25.3 deletion syndrome (disorder)	Is a	Distal monosomy 3p syndrome	true	SNOMED RT Concept	SNOMED RT Concept
3p25.3 deletion syndrome (disorder)	Is a	Congenital malformation	true	SNOMED RT Concept	SNOMED RT Concept
3p25.3 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	SNOMED RT Concept	SNOMED RT Concept	1
3p25.3 deletion syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	1
3p25.3 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	1
3p25.3 deletion syndrome (disorder)	Finding site	Chromosome pair 3	true	SNOMED RT Concept	SNOMED RT Concept	1
3p25.3 deletion syndrome (disorder)	Associated morphology	Deletion of short arm	true	SNOMED RT Concept	SNOMED RT Concept	2
3p25.3 deletion syndrome (disorder)	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	2
3p25.3 deletion syndrome (disorder)	Finding site	Chromosome pair 3	true	SNOMED RT Concept	SNOMED RT Concept	2
3p25.3 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	2

Inbound Relationships

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Reference Sets

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
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
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
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