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23686004: Ring chromosome 20 syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\...

\Ring chromosome\Ring chromosome 20 syndrome

\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Ring chromosome 20 syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 20 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Ring chromosome\Ring chromosome 20 syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Ring chromosome 20 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 20 syndrome

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

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

4212346010 Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4212347018 Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. en Definition Active Entire term case sensitive (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) Belgian module (core metadata concept)

975091000172114 chromosome 20 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

904991000172116 ringchromosoom 20 syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

938341000172112 ring 20 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome 20 syndrome	Is a	Chromosome replaced with ring or dicentric	false	Inferred relationship	Some
Ring chromosome 20 syndrome	Is a	Anomaly of chromosome pair 20	true	Inferred relationship	Some
Ring chromosome 20 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Ring chromosome 20 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Ring chromosome 20 syndrome	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
Ring chromosome 20 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Ring chromosome 20 syndrome	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 20 syndrome	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 20 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
4212346010	Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4212347018	Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.	en	Definition	Active	Entire term case sensitive (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)	Belgian module (core metadata concept)
975091000172114	chromosome 20 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
904991000172116	ringchromosoom 20 syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
938341000172112	ring 20	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)