9q34 deletion - CISMeF

Preferred Label : 9q34 deletion;

ICD-11 synonym : 9q34 deletion syndrome;

Origin ID

998713559;

UMLS CUI

C0795833;

Currated CISMeF NLP mapping
- 9q34 deletion syndrome (disorder) [SNOMED CT concept]
- Kleefstra Syndrome [Disease (Nov.)]
- Kleefstra Syndrome [NCIt concept]
- Kleefstra Syndrome [DO Concept]
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome 1 [DO Concept]
- kleefstra syndrome [MeSH concept]
- kleefstra syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kleefstra Syndrome [DO Concept]
- Kleefstra Syndrome [NCIt concept]
- Kleefstra Syndrome [Disease (Nov.)]
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome (disorder) [SNOMED CT concept]
- Kleefstra syndrome 1 [DO Concept]
- Kleefstra syndrome 1 [OMIM Phenotype]
- Kleefstra syndrome due to 9q34 microdeletion [ORDO Disease]
- kleefstra syndrome [MeSH concept]
- kleefstra syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Kleefstra syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Kleefstra syndrome (disorder) [SNOMED CT concept]