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23686004: Ring chromosome 20 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5448983012 A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5448984018 A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
39772011 Ring chromosome 20 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753235011 Ring chromosome 20 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
884671000172119 syndrome du chromosome 20 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975091000172114 chromosome 20 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422611001000111 Ringchromosom-20-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Is a Chromosome replaced with ring or dicentric false Inferred relationship Some
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Is a Anomaly of chromosome pair 20 true Inferred relationship Some
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Occurrence Congenital false Inferred relationship Some
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Finding site Sex chromosome false Inferred relationship Some
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Finding site Chromosome pair 20 false Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Associated morphology Ring chromosome false Inferred relationship Some 2
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Associated morphology anomalie congénitale false Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Associated morphology anomalie congénitale false Inferred relationship Some
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Finding site Chromosome pair 20 false Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Occurrence Congenital true Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Finding site Chromosome pair 20 true Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Is a Ring chromosome true Inferred relationship Some
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Associated morphology Ring chromosome true Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Is a Multiple system malformation syndrome true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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