13q deletion syndrome

Preferred Label : 13q deletion syndrome;

CISMeF synonym : chromosome 13q deletion; chromosome 13q syndrome;

MeSH synonym : monosomy 13q syndrome; chromosome 13q deletion syndrome; deletion 13q syndrome; orbeli's syndrome; orbeli syndrome;

Related MeSH term : Monosomy 13q; Chromosome 13q monosomy; Deletion 13q;

Détails

Origin ID

C535484;

UMLS CUI

C0265451;

Currated CISMeF NLP mapping
- 13q partial monosomy syndrome [SNOMED Notion]
- 13q partial monosomy syndrome (disorder) [SNOMED CT concept]
- 13q32 deletion [ICD-11 More detail]
- Distal monosomy 13q [ORDO Disease]
- Loss of Chromosome 13q [NCIt concept]
- Monosomy 13q Syndrome [NCIt concept]
- Partial deletion of the long arm of chromosome 13 [ORDO Disease]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- chromosomes, human, pair 13 [MeSH Descriptor]
Record concept(s)
- 13q deletion syndrome [MeSH concept]
- chromosome 13q deletion [MeSH concept]
- chromosome 13q syndrome [MeSH concept]
See also inter- (CISMeF)
- Chromosome 13q14 deletion syndrome [OMIM Phenotype]
- Distal monosomy 13q syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 13q partial monosomy syndrome [SNOMED Notion]
- 13q partial monosomy syndrome (disorder) [SNOMED CT concept]
- Monosomy 13q Syndrome [NCIt concept]
- Partial deletion of the long arm of chromosome 13 [ORDO Disease]
Validated automatic mappings to BTNT
- 13q32 deletion [ICD-11 More detail]

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