DeCS

Descriptor en español:

Amaurosis Congénita de Leber

Español de España

Descriptor

amaurosis congénita de Leber

Nota de alcance:

Rara enfermedad ocular hereditaria degenerativa que aparece en el nacimiento o en los primeros meses de vida y que conduce a una pérdida de la visión. No debe confundirse con la NEUROPATÍA ÓPTICA HEREDITARIA DE LEBER. La enfermedad se cree que es causada por el desarrollo anormal de las CÉLULAS FOTORRECEPTORAS en la RETINA o por la degeneración extremadamente prematura de las células retinianas.

Descriptor en inglés:

Leber Congenital Amaurosis

Descriptor en portugués:

Amaurose Congênita de Leber

Descriptor en francés:

Amaurose congénitale de Leber

Término(s) alternativo(s):

Abiotrophies, Leber
Abiotrophy, Leber
Amauroses, Leber Congenital
Amauroses, Leber's
Amaurosis, Leber Congenital
Amaurosis, Leber's
Blindness, Congenital Retinal
Blindnesses, Congenital Retinal
Congenital Amauroses, Leber
Congenital Amaurosis of Retinal Origin
Congenital Amaurosis, Leber
Congenital Retinal Blindness
Congenital Retinal Blindnesses
Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia of Retina
Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis
Leber Abiotrophies
Leber Abiotrophy
Leber Amaurosis
Leber Congenital Amauroses
Leber Congenital Tapetoretinal Degeneration
Leber's Amauroses
Leber's Amaurosis
Lebers Amaurosis
Retinal Blindnesses, Congenital

Código(s) jeráquico(s):

C11.270.516
C11.768.364

Identificador Único RDF:

https://id.nlm.nih.gov/mesh/D057130

Nota de alcance:

A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.

Calificadores 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

UI del concepto	M0534720
Nota de alcance	A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
Término preferido	Leber Congenital Amaurosis
Término(s) alternativo(s)	Abiotrophies, Leber Abiotrophy, Leber Amauroses, Leber Congenital Amauroses, Leber's Amaurosis, Leber Congenital Amaurosis, Leber's Blindness, Congenital Retinal Blindnesses, Congenital Retinal Congenital Amauroses, Leber Congenital Amaurosis, Leber Congenital Retinal Blindness Congenital Retinal Blindnesses Leber Abiotrophies Leber Abiotrophy Leber Amaurosis Leber Congenital Amauroses Leber Congenital Tapetoretinal Degeneration Leber's Amauroses Leber's Amaurosis Lebers Amaurosis Retinal Blindnesses, Congenital

UI del concepto	M0584400
Término preferido	Congenital Amaurosis of Retinal Origin
Término(s) alternativo(s)	Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis

Queremos sus comentarios sobre el nuevo sitio web de DeCS / MeSH

Lo invitamos a completar una encuesta que no tomará más de 3 minutos.