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
- NCIT:C84348 (MONDO:equivalentTo)
- NANDO:2100220 (https://orcid.org/0000-0003-0011-764X)
- SCTID:78572006 (MONDO:equivalentTo)
- UMLS:C0265316 (MONDO:equivalentTo)
- MESH:D020752 (MONDO:equivalentTo)
- MEDGEN:82706 (MONDO:equivalentTo)
otar
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
http://identifiers.org/medgen/82706
Phacomatoses
syndromes, neuroectodermal dysplasia
syndrome, neurocutaneous
syndrome, neuroectodermal dysplasia
neuroectodermal dysplasia syndrome
Phakomatoses
Phacomatosis
neuroectodermal dysplasia syndromes
neurocutaneous disorders
neuroectodermal dysplasia
syndromes, neurocutaneous
phakomatosis
neurocutaneous disorder