Skeletal dysplasia - epilepsy - short stature

Preferred Label : Skeletal dysplasia - epilepsy - short stature;

ICD-11 definition : Skeletal dysplasia - epilepsy - short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia.;

Details

Origin ID

817582776;

UMLS CUI

C0796046;

Currated CISMeF NLP mapping
- Gurrieri Sammito Bellussi syndrome [MeSH concept]
- Gurrieri syndrome [OMIM Phenotype]
- Skeletal dysplasia with epilepsy and short stature syndrome (disorder) [SNOMED CT concept]
- Skeletal dysplasia-epilepsy-short stature syndrome [ORDO Disease]
- gurrieri sammito bellussi syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gurrieri Sammito Bellussi syndrome [MeSH concept]
- Gurrieri syndrome [OMIM Phenotype]
- Skeletal dysplasia with epilepsy and short stature syndrome (disorder) [SNOMED CT concept]
- Skeletal dysplasia-epilepsy-short stature syndrome [ORDO Disease]
- gurrieri sammito bellussi syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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