Proteus Syndrome

Preferred Label : Proteus Syndrome;

NCIt definition : A very rare congenital disorder characterized by the development of multiple cutaneous and subcutaneous lesions including lipomas, nevi, and vascular malformations, associated with partial gigantism or digital overgrowth.;

Détails

Origin ID

C85032;

UMLS CUI

C0085261;

Currated CISMeF NLP mapping
- Proteus syndrome [MedDRA Preferred Term]
- Proteus syndrome [DO Concept]
- Proteus syndrome [PASCAL descriptor]
- Proteus syndrome [ICD-11 More detail]
- Proteus syndrome [OMIM Phenotype]
- Proteus syndrome [ORDO Disease]
- Proteus syndrome (disorder) [SNOMED CT concept]
- proteus syndrome [Disease (Nov.)]
- proteus syndrome [MeSH Descriptor]
- proteus syndrome [MeSH concept]
- proteus syndrome [SNOMED Notion]
DO Cross reference
- Proteus syndrome [DO Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Proteus syndrome [ORDO Disease]
- Proteus syndrome [OMIM Phenotype]
- Proteus syndrome [MedDRA Preferred Term]
- Proteus syndrome [PASCAL descriptor]
- Proteus syndrome [DO Concept]
- Proteus syndrome [ICD-11 More detail]
- Proteus syndrome (disorder) [SNOMED CT concept]
- proteus syndrome [Disease (Nov.)]
- proteus syndrome [SNOMED Notion]
- proteus syndrome [MeSH Descriptor]
- proteus syndrome [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- AKT1 Gene [NCIt concept]

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

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