kleefstra syndrome

Preferred Label : kleefstra syndrome;

MeSH synonym : chromosome 9q34.3 deletion syndrome; 9q subtelomeric deletion syndrome; 9q- syndrome; 9q34.3 microdeletion syndrome; 9q34.3 deletion syndrome;

Details

Origin ID

C563043;

UMLS CUI

C0795833;

Automatic exact mappings (from CISMeF team)
- Kleefstra syndrome [MedDRA Preferred Term]
- Kleefstra syndrome [OMIM phenotypic series]
- Kleefstra syndrome [DO Concept]
- Kleefstra syndrome due to 9q34 microdeletion [ORDO Disease]
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]
DO Cross reference
- Kleefstra syndrome 1 [DO Concept]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 9 [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- kleefstra syndrome [MeSH 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]

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