Monosomy 13q Syndrome

Preferred Label : Monosomy 13q Syndrome;

NCIt synonyms : 13q Deletion Syndrome;

NCIt related terms : 13q Syndrome;

NCIt definition : A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation.;

Details

Origin ID

C98993;

UMLS CUI

C0265451;

Currated CISMeF NLP mapping
- 13q deletion syndrome [MeSH Supplementary Concept]
- 13q deletion syndrome [MeSH concept]
- 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]
- Distal monosomy 13q syndrome (disorder) [SNOMED CT concept]
- Partial deletion of the long arm of chromosome 13 [ORDO Disease]
- chromosome 13q deletion [MeSH concept]
- deletion 13q syndrome, partial [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 13q deletion syndrome [MeSH Supplementary Concept]
- 13q deletion syndrome [MeSH concept]
- 13q partial monosomy syndrome [SNOMED Notion]
- 13q partial monosomy syndrome (disorder) [SNOMED CT concept]
- Partial deletion of the long arm of chromosome 13 [ORDO Disease]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_molecular_abnormality
- Loss of Chromosome 13q [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 13 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients