Ring Chromosome 18 Syndrome

Preferred Label : Ring Chromosome 18 Syndrome;

NCIt definition : A rare condition in which the two arms of chromosome 18 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.;

NCI Metathesaurus CUI : CL979353;

Details

Origin ID

C175706;

UMLS CUI

C0265475;

Automatic exact mappings (from CISMeF team)
- ring 18 chromosome syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Ring chromosome 18 syndrome [ORDO Disease]
- Ring chromosome 18 syndrome (disorder) [SNOMED CT concept]
- ring chromosome 18 syndrome [SNOMED Notion]
See also inter- (CISMeF)
- chromosome 18 ring [MeSH Supplementary Concept]
- chromosome 18 ring [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ring chromosome 18 syndrome (disorder) [SNOMED CT concept]
- ring chromosome 18 syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 18 [NCIt concept]

Keyword's position in hierarchy(ies) :

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