A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. [ MESH:D020752 ]
Synonyms: neurocutaneous syndrome
Term information
- UMLS:C0265316 (MONDO:equivalentTo)
- SCTID:78572006 (MONDO:equivalentTo)
- NCIT:C84348 (MONDO:equivalentTo)
- MESH:D020752 (MONDO:equivalentTo)
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
http://identifiers.org/snomedct/78572006
http://linkedlifedata.com/resource/umls/id/C0265316
http://identifiers.org/mesh/D020752
http://purl.obolibrary.org/obo/NCIT_C84348
Phacomatoses
syndromes, neuroectodermal dysplasia
syndrome, neurocutaneous
syndrome, neuroectodermal dysplasia
Phacomatosis
neuroectodermal dysplasia syndromes
neuroectodermal dysplasia syndrome
Phakomatoses
neurocutaneous disorders
neuroectodermal dysplasia
syndromes, neurocutaneous
phakomatosis
neurocutaneous disorder