Preferred Name |
Encephalocraniocutaneous Lipomatosis |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4701 |
code |
C4701 |
DEFINITION |
A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations. |
FULL_SYN |
ECCL Fishman Syndrome |
label |
Encephalocraniocutaneous Lipomatosis |
Legacy_Concept_Name |
Encephalocraniocutaneous_Lipomatosis |
Neoplastic_Status |
Benign |
Preferred_Name |
Encephalocraniocutaneous Lipomatosis |
prefixIRI |
C4701 |
prefLabel |
Encephalocraniocutaneous Lipomatosis |
Semantic_Type |
Neoplastic Process |
UMLS_CUI |
C0406612 |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C535736 | Medical Subject Headings | LOOM | |
http://purl.bioontology.org/ontology/OMIM/613001 | Online Mendelian Inheritance in Man | LOOM |