Ring Chromosome 22 Syndrome

Preferred Label : Ring Chromosome 22 Syndrome;

NCIt definition : A rare condition in which the two arms of chromosome 22 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.;

Details

Origin ID

C179702;

UMLS CUI

C0265492;

Currated CISMeF NLP mapping
- Ring chromosome 22 syndrome [ORDO Disease]
- Ring chromosome 22 syndrome (disorder) [SNOMED CT concept]
- ring chromosome 22 syndrome [SNOMED Notion]
See also inter- (CISMeF)
- chromosome 22 ring [MeSH Supplementary Concept]
- chromosome 22 ring [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ring chromosome 22 syndrome (disorder) [SNOMED CT concept]
- ring chromosome 22 syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 22 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients