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Neurocutaneous Syndrome
- Definition
- CNS syndromes associated with dermatologic findings
- Pathophysiology
- Familial disorders of ectoderm differentiation
- Neurocutaneous conditions
- Neurofibromatosis
- Tuberous Sclerosis
- Sturge-Weber Disease
- Von Hippel-Lindau Disease
- Ataxia telangiectasia
- Linear Nevus Syndrome
- Hypomelanosis of Ito
- Incontinentia pigmenti
- References
- Behrman (2000) Nelson Textbook of Pediatrics, p. 1835
- Kandt (2002) Neurol Clin 20(4):941
Neurocutaneous Syndromes (C0265316) | |
|---|---|
| Definition (MSH) | A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. |
| Concepts | Congenital Abnormality (T019) |
| MSH | D020752 |
| English | NEUROCUTANEOUS DIS, Neurocutaneous Disorder, Neurocutaneous Disorders, Neurocutaneous syndrome, Neurocutaneous Syndromes, Neuroectodermal dysplasia, Neuroectodermal Dysplasia Syndrome, Neuroectodermal Dysplasia Syndromes, Phacomatoses, Phacomatosis, Phakomatoses, Phakomatosis |
| Spanish | displasia neuroectodermica, facomatosis, sindrome neurocutaneo |
| Parent Concepts | Ectodermal Dysplasia (C0013575), nervous system disorder (C0027765), Skin Abnormalities (C0037268), Congenital neurologic anomalies (C0497552), Hereditary disorder of the integument (C1285303), Hereditary disorder of nervous system (C1285380) |
| Sources | LCH, MSH, MTH, NDFRT, SCTSPA, SNOMEDCT Derived from the NIH UMLS (Unified Medical Language System) |