legius syndrome

Preferred Label : legius syndrome;

MeSH note : Neurofibromatosis type 1 overlapping phenotype. See J Med Genet. 46(7):425-430; different mutation in SPRED1 protein, human (C504812).;

MeSH synonym : neurofibromatosis type 1-Like syndrome;

Details

Origin ID

C548032;

UMLS CUI

C1969623;

Automatic exact mappings (from CISMeF team)
- Legius syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Legius Syndrome [NCIt concept]
- Legius syndrome [Disease (Nov.)]
- Legius syndrome [OMIM Phenotype]
- Legius syndrome [ORDO Disease]
- Neurofibromatosis type 1-like syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
- triangular face with age [HPO term]
MeSH term(s) associated for indexing
- cafe-au-lait spots [MeSH Descriptor]
ORDO relation(s)
- Legius syndrome [ORDO Disease]
Record concept(s)
- Legius syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Legius Syndrome [NCIt concept]
- Legius syndrome [OMIM Phenotype]
- Legius syndrome [ORDO Disease]
- Legius syndrome [Disease (Nov.)]
- Neurofibromatosis type 1-like syndrome (disorder) [SNOMED CT concept]

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