23686004: Ring chromosome 20 syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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.

\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Ring chromosome\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.
\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 20\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.

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\...

\Ring chromosome\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.

\Anomaly of chromosome pair\Anomaly of chromosome pair 20\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.

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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.

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

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

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

1684821000005112 Ringkromosom 20-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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.	Is a	Kromosom erstattet af ring eller dicentrisk	false	Inferred relationship	Some
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.	Is a	Anomaly of chromosome pair 20	true	Inferred relationship	Some
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.	Occurrence	Congenital	false	Inferred relationship	Some
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.	Finding site	Sex chromosome	false	Inferred relationship	Some
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.	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
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.	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
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.	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
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.	Associated morphology	kongenit anomali	false	Inferred relationship	Some
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.	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
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.	Occurrence	Congenital	true	Inferred relationship	Some	1
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.	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
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.	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
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.	Is a	Ring chromosome	true	Inferred relationship	Some
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.	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
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.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
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.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

Refinability

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This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
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
1684821000005112	Ringkromosom 20-syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)