Encephalocraniocutaneous Lipomatosis

Preferred Label : Encephalocraniocutaneous Lipomatosis;

NCIt synonyms : Fishman Syndrome; ECCL;

NCIt definition : A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.;

Neoplastic status : Benign;

Details

Origin ID

C4701;

UMLS CUI

C0406612;

Automatic exact mappings (from CISMeF team)
- Encephalocraniocutaneous lipomatosis [PASCAL descriptor]
- Encephalocraniocutaneous lipomatosis [ICD-11 More detail]
Currated CISMeF NLP mapping
- Encephalocraniocutaneous lipomatosis [MeSH concept]
- Encephalocraniocutaneous lipomatosis [OMIM Phenotype]
- Encephalocraniocutaneous lipomatosis [ORDO Disease]
- Encephalocraniocutaneous lipomatosis (disorder) [SNOMED CT concept]
- encephalocraniocutaneous lipomatosis [MeSH Supplementary Concept]
Disease excludes abnormal cell
- Malignant Cell [NCIt concept]
- Neoplastic Lipoblast [NCIt concept]
Disease excludes normal cell origin
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalocraniocutaneous lipomatosis [ORDO Disease]
- Encephalocraniocutaneous lipomatosis [MeSH concept]
- Encephalocraniocutaneous lipomatosis [OMIM Phenotype]
- Encephalocraniocutaneous lipomatosis (disorder) [SNOMED CT concept]
- encephalocraniocutaneous lipomatosis [MeSH Supplementary Concept]
disease_excludes_finding
- Localized Disease [NCIt concept]
- Locally Aggressive Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Connective and Soft Tissue Cell [NCIt concept]
- Neoplastic Lipocyte [NCIt concept]
- Neoplastic Mature Adipocyte [NCIt concept]
disease_has_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Multifocal Lesion [NCIt concept]
disease_has_normal_cell_origin
- Adipocyte [NCIt concept]
- Connective and Soft Tissue Cell [NCIt concept]
disease_has_normal_tissue_origin
- Adipose Tissue [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Head and Neck [NCIt concept]
- Skin [NCIt concept]

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