kleefstra syndrome

Preferred Label : kleefstra syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0563343;

UMLS CUI

C0795833;

Automatic exact mappings (from CISMeF team)
- Kleefstra syndrome [MedDRA Preferred Term]
- Kleefstra syndrome [OMIM phenotypic series]
- Kleefstra syndrome [DO Concept]
Currated CISMeF NLP mapping
- 9q34 deletion [ICD-11 More detail]
- Kleefstra Syndrome [DO Concept]
- Kleefstra Syndrome [Disease (Nov.)]
- Kleefstra Syndrome [NCIt concept]
- Kleefstra syndrome [ICD-11 More detail]
- Kleefstra syndrome [ORDO Disease]
- Kleefstra syndrome (disorder) [SNOMED CT concept]
- Kleefstra syndrome 1 [DO Concept]
Related record
- kleefstra syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 9q34 deletion [ICD-11 More detail]
- 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 [OMIM Phenotype]
- Kleefstra syndrome 1 [DO Concept]
- Kleefstra syndrome due to 9q34 microdeletion [ORDO Disease]
Validated automatic mappings to BTNT
- Kleefstra syndrome 1 [OMIM Phenotype]