Legius Syndrome

Preferred Label : Legius Syndrome;

NCIt synonyms : LGSS; Neurofibromatosis Type 1-like Syndrome;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the SPRED1 gene, encoding sprouty-related, EVH1 domain-containing protein 1. The condition resembles neurofibromatosis type I but is less severe. Affected individuals may present with multiple cafe-au-lait spots, variable dysmorphic features, including hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems.;

Détails

Origin ID

C176941;

UMLS CUI

C1969623;

Automatic exact mappings (from CISMeF team)
- Legius syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Legius syndrome [OMIM Phenotype]
- Legius syndrome [Disease (Nov.)]
- Legius syndrome [ORDO Disease]
- Legius syndrome [MeSH concept]
- Neurofibromatosis type 1-like syndrome (disorder) [SNOMED CT concept]
- legius syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Legius syndrome [OMIM Phenotype]
- Legius syndrome [MeSH concept]
- Legius syndrome [Disease (Nov.)]
- Legius syndrome [ORDO Disease]
- Neurofibromatosis type 1-like syndrome (disorder) [SNOMED CT concept]
- legius syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- SPRED1 Gene [NCIt concept]
related_to_genetic_biomarker
- SPRED1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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