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Descriptor in English: Optic Nerve Hypoplasia
Descriptor in Spanish: Hipoplasia del Nervio Óptico
Descriptor in Portuguese: Hipoplasia do Nervo Óptico
Descriptor in French: Without translation
Entry term(s): Hypoplasia, Optic Nerve
Superior Segmental Optic Hypoplasia
Superior Segmental Optic Nerve Hypoplasia
Tree number(s): C10.292.700.463
C10.500.760
C11.270.588
C11.640.522
C16.131.666.763
C16.320.290.612
Scope note: A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations.
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
History Note: 2020
DeCS UI: 59180
Descriptor UI: D000080344
Date Established: 2020/01/01
Date of Entry: 2019/07/08
Revision Date: 2019/04/08
Optic Nerve Hypoplasia - Preferred
Concept UI M000647104
Scope note A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations.
Preferred term Optic Nerve Hypoplasia
Entry term(s) Hypoplasia, Optic Nerve
Superior Segmental Optic Nerve Hypoplasia - Narrower
Concept UI M000647105
Scope note Underdevelopment of the superior aspect of the OPTIC NERVE HEAD.
Preferred term Superior Segmental Optic Nerve Hypoplasia
Entry term(s) Superior Segmental Optic Hypoplasia



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