gurrieri sammito bellussi syndrome

Preferred Label : gurrieri sammito bellussi syndrome;

MeSH synonym : gurrieri syndrome; skeletal dysplasia epilepsy short stature;

Origin ID

C537625;

UMLS CUI

C0796046;

Currated CISMeF NLP mapping
- Gurrieri syndrome [OMIM Phenotype]
- Skeletal dysplasia - epilepsy - short stature [ICD-11 More detail]
- Skeletal dysplasia with epilepsy and short stature syndrome (disorder) [SNOMED CT concept]
- Skeletal dysplasia-epilepsy-short stature syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- epilepsy [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Gurrieri Sammito Bellussi syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gurrieri syndrome [OMIM Phenotype]
- Skeletal dysplasia - epilepsy - short stature [ICD-11 More detail]
- Skeletal dysplasia with epilepsy and short stature syndrome (disorder) [SNOMED CT concept]
- Skeletal dysplasia-epilepsy-short stature syndrome [ORDO Disease]