Ring Chromosome 20 Syndrome

Preferred Label : Ring Chromosome 20 Syndrome;

NCIt definition : A rare condition in which the two arms of chromosome 20 are fused resulting in a ring chromosome. It is characterized by recurrent seizures with an onset in childhood. Additional features my include microcephaly and short stature.;

Details

Origin ID

C169001;

UMLS CUI

C0265482;

Currated CISMeF NLP mapping
- Ring chromosome 20 syndrome [ORDO Disease]
- Ring chromosome 20 syndrome (disorder) [SNOMED CT concept]
- ring chromosome 20 syndrome [MeSH concept]
- ring chromosome 20 syndrome [SNOMED Notion]
- ring chromosome 20 syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Ring chromosome 20 with normal number of chromosomes [ICD-11 More detail]
- chromosome 20 ring [MeSH Supplementary Concept]
- chromosome 20 ring [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ring chromosome 20 syndrome (disorder) [SNOMED CT concept]
- ring chromosome 20 syndrome [SNOMED Notion]
- ring chromosome 20 syndrome [MeSH Supplementary Concept]
- ring chromosome 20 syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 20 [NCIt concept]

Keyword's position in hierarchy(ies) :

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