13q14 deletion

Preferred Label : 13q14 deletion;

ICD-11 synonym : 13q14 deletion sydnrome;

Origin ID

459627137;

UMLS CUI

C3151302;

Automatic exact mappings (from CISMeF team)
- del(13q14) [NCIt concept]
Currated CISMeF NLP mapping
- Chromosome 13q14 deletion syndrome [OMIM Phenotype]
- Monosomy 13q14 [ORDO Disease]
- Monosomy 13q14 syndrome (disorder) [SNOMED CT concept]
- chromosome 13q14 deletion syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 13q14 deletion syndrome [OMIM Phenotype]
- Monosomy 13q14 [ORDO Disease]
- chromosome 13q14 deletion syndrome [DO Concept]