JSON

neurocutaneous syndrome

^ http://purl.obolibrary.org/obo/MONDO_0042983


A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. [ MESH:D020752 ]

Term info

database cross reference
  • SCTID:78572006 (MONDO:equivalentTo)
  • UMLS:C0265316 (MONDO:equivalentTo)
  • NCIT:C84348 (MONDO:equivalentTo)
  • MESH:D020752 (MONDO:equivalentTo)
comment

A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category

definition

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.

exactMatch

http://identifiers.org/snomedct/78572006, http://linkedlifedata.com/resource/umls/id/C0265316, http://identifiers.org/mesh/D020752, http://purl.obolibrary.org/obo/NCIT_C84348

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019287

has exact synonym

neurocutaneous syndrome

has related synonym

Phacomatoses, syndromes, neuroectodermal dysplasia, syndrome, neurocutaneous, syndrome, neuroectodermal dysplasia, neuroectodermal dysplasia syndrome, neuroectodermal dysplasia syndromes, Phacomatosis, Phakomatoses, neurocutaneous disorders, syndromes, neurocutaneous, neuroectodermal dysplasia, phakomatosis, neurocutaneous disorder

id

MONDO:0042983

Term relations