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Descritor em português: | Síndrome de Waardenburg | ||||||
Descritor em inglês: | Waardenburg Syndrome | ||||||
Descritor em espanhol: |
Síndrome de Waardenburg
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Descritor em francês: | Syndrome de Waardenburg | ||||||
Termo(s) alternativo(s): |
Klein Syndrome Klein Waardenburg Syndrome Klein's Syndrome Klein-Waardenburg Syndrome Kleins Syndrome Syndrome, Klein Syndrome, Klein's Syndrome, Klein-Waardenburg Syndrome, Waardenburg Syndrome, Waardenburg's Syndrome, Waardenburg-Klein Waardenburg Klein Syndrome Waardenburg Syndrome Type 1 Waardenburg Syndrome Type 3 Waardenburg Syndrome with Dystopia Canthorum Waardenburg Syndrome with Upper Limb Anomalies Waardenburg Syndrome, Type 1 Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type III Waardenburg's Syndrome Waardenburg's Syndrome Type 1 Waardenburg-Klein Syndrome Waardenburgs Syndrome White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations |
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Código(s) hierárquico(s): |
C16.131.077.938 |
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Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D014849 | ||||||
Nota de escopo: | Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. |
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Qualificadores permitidos: |
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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Nota MeSH pública: | 2013 (1966); see ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012 |
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Nota histórica: | 2013 (1966); use ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012 |
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Veja também os descritores: |
Piebaldism
MeSH | ||||||
Identificador DeCS: | 15250 | ||||||
ID do descritor: | D014849 | ||||||
Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
Data de estabelecimento: | 01/01/1991 | ||||||
Data de entrada: | 01/01/1999 | ||||||
Data de revisão: | 08/07/2013 |
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Waardenburg Syndrome
- Conceito preferido
Waardenburg Syndrome Type 1
- Mais específico
Klein Syndrome
- Relacionado, mas não mais amplo ou mais específico
Identificador do conceito |
M0022860 |
Nota de escopo | Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. |
Termo preferido | Waardenburg Syndrome |
Termo(s) alternativo(s) |
Syndrome, Waardenburg Syndrome, Waardenburg's Waardenburg's Syndrome Waardenburgs Syndrome |
Identificador do conceito |
M0561583 |
Termo preferido | Waardenburg Syndrome Type 1 |
Termo(s) alternativo(s) |
Waardenburg Syndrome with Dystopia Canthorum Waardenburg Syndrome, Type 1 Waardenburg's Syndrome Type 1 |
Identificador do conceito |
M0022861 |
Termo preferido | Klein Syndrome |
Termo(s) alternativo(s) |
Klein Waardenburg Syndrome Klein's Syndrome Klein-Waardenburg Syndrome Kleins Syndrome Syndrome, Klein Syndrome, Klein's Syndrome, Klein-Waardenburg Syndrome, Waardenburg-Klein Waardenburg Klein Syndrome Waardenburg Syndrome Type 3 Waardenburg Syndrome with Upper Limb Anomalies Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type III Waardenburg-Klein Syndrome White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations |
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