| Descriptor English: | Netherton Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Netherton
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| Descriptor Portuguese: | Síndrome de Netherton | ||||||
| Descriptor French: | Syndrome de Netherton | ||||||
| Entry term(s): |
Netherton Disease |
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| Tree number(s): |
C16.131.077.619 C16.131.831.512.400.705 C16.320.850.673 C16.614.492.400.705 C17.800.428.333.250.705 C17.800.804.512.400.705 C17.800.827.655 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D056770 | ||||||
| Scope note: | Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Ichthyosiform Erythroderma, Congenital (1992-2009) |
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| Public MeSH Note: | 2010 |
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| History Note: | 2010 |
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| Related: |
Serine Peptidase Inhibitor Kazal-Type 5
MeSH | ||||||
| DeCS ID: | 53553 | ||||||
| Unique ID: | D056770 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2010/01/01 | ||||||
| Date of Entry: | 2009/07/06 | ||||||
| Revision Date: | 2017/02/27 |
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Netherton Syndrome
- Preferred
| Concept UI |
M0529110 |
| Scope note | Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene. |
| Preferred term | Netherton Syndrome |
| Entry term(s) |
Netherton Disease |
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