Temple syndrome

Preferred Label : Temple syndrome;

MeSH synonym : maternal uniparental disomy of chromosome 14; UPD14mat;

Origin ID

C000726750;

UMLS CUI

C4015558;

Currated CISMeF NLP mapping
- Temple syndrome [DO Concept]
- Temple syndrome [OMIM Phenotype]
- Temple syndrome [ORDO Disease]
- Temple syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- Imprinting Disorders [MeSH Descriptor]
- facies [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
Record concept(s)
- Temple syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maternal Uniparental Disomy Chromosome 14 Syndrome [NCIt concept]
- Maternal uniparental disomy of chromosome 14 [ICD-11 More detail]
- Maternal uniparental disomy of chromosome 14 (disorder) [SNOMED CT concept]
- Temple syndrome [OMIM Phenotype]
- Temple syndrome [DO Concept]
- Temple syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Temple syndrome due to maternal uniparental disomy of chromosome 14 [ORDO Disease]
Validated automatic mappings to NTBT
- Maternal Uniparental Disomy Chromosome 14 Syndrome [NCIt concept]
- Maternal uniparental disomy of chromosome 14 [ICD-11 More detail]
- Maternal uniparental disomy of chromosome 14 (disorder) [SNOMED CT concept]