Pesquisa
Descritor em português: Disceratose Congênita
Descritor em inglês: Dyskeratosis Congenita
Descritor em espanhol: Disqueratosis Congénita
Descritor disqueratosis congénita
Termo(s) alternativo(s) disqueratosis congénita ligada a X
disqueratosis congénita ligada al X
síndrome de Zinsser-Cole-Engman
Nota de escopo: Síndrome recesivo, predominantemente vinculado a X, caracterizado por una triada de: pigmentación cutánea reticular, distrofia ungueal, y leucoplasia de membranas mucosas. También pueden presentarse anomalías orales y dentarias. Entre las complicaciones hemos de considerar: la predisposición a malignizar y la afectación de la medula ósea, con pancitopenia (Traducción libre del original: Int J Paediatr Dent 2000 Dec;10(4):328-34). La forma vinculada a X también se conoce como síndrome de Zinsser-Cole-Engman, y tiene relación con el gen que codifica una proteína altamente conservada denominada disquerina.
Descritor em francês: Dyskératose congénitale
Termo(s) alternativo(s): Congenita, X-Linked Dyskeratosis
Dyskeratosis Congenita, X Linked
Dyskeratosis Congenita, X-Linked
Syndrome, Zinsser-Cole-Engman
X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenitas
Zinsser Cole Engman Syndrome
Zinsser-Cole-Engman Syndrome
Código(s) hierárquico(s): C15.378.190.223.500.750
C16.131.831.150
C16.320.322.108
C16.320.850.235
C17.800.804.150
C17.800.827.235
Identificador Único RDF: https://id.nlm.nih.gov/mesh/D019871
Nota de escopo: A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
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
Nota MeSH pública: 98
Nota histórica: 98
Identificador DeCS: 33362
ID do descritor: D019871
Documentos indexados na Biblioteca Virtual em Saúde (BVS): Clique aqui para acessar os documentos da BVS
Data de estabelecimento: 01/01/1998
Data de entrada: 20/06/1997
Data de revisão: 18/06/2015
Dyskeratosis Congenita - Conceito preferido
Identificador do conceito M0029508
Nota de escopo A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
Termo preferido Dyskeratosis Congenita
Zinsser-Cole-Engman Syndrome - Mais específico
Identificador do conceito M0385213
Termo preferido Zinsser-Cole-Engman Syndrome
Termo(s) alternativo(s) Congenita, X-Linked Dyskeratosis
Dyskeratosis Congenita, X Linked
Dyskeratosis Congenita, X-Linked
Syndrome, Zinsser-Cole-Engman
X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenitas
Zinsser Cole Engman Syndrome



Queremos a sua opinião sobre o novo sitio web do DeCS/MeSH

Convidamos-lhe a responder a uma pesquisa que não levará mais que 3 minutos

Ir para pesquisa