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Descriptor English: Holoprosencephaly
Descriptor Spanish: Holoprosencefalia
Descriptor Portuguese: Holoprosencefalia
Descriptor French: Holoprosencéphalie
Entry term(s): Alobar Holoprosencephalies
Alobar Holoprosencephaly
Arhinencephalies
Arhinencephaly
Holoprosencephalies
Holoprosencephalies, Alobar
Holoprosencephalies, Lobar
Holoprosencephalies, Semilobar
Holoprosencephaly, Alobar
Holoprosencephaly, Familial Alobar
Holoprosencephaly, Lobar
Holoprosencephaly, Semilobar
Lobar Holoprosencephalies
Lobar Holoprosencephaly
Semilobar Holoprosencephalies
Semilobar Holoprosencephaly
Tree number(s): C05.660.207.410
C10.500.034.875
C16.131.077.410
C16.131.260.380
C16.131.621.207.410
C16.131.666.034.875
C16.320.180.380
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D016142
Scope note: Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
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
Previous Indexing: Abnormalities, Multiple (1966-1990)
Brain/abnormalities (1966-1990)
Public MeSH Note: 91
History Note: 91
DeCS ID: 28982
Unique ID: D016142
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1990/04/24
Revision Date: 2014/06/10
Holoprosencephaly - Preferred
Concept UI M0024659
Scope note Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
Preferred term Holoprosencephaly
Entry term(s) Holoprosencephalies
Semilobar Holoprosencephaly - Narrower
Concept UI M0336862
Preferred term Semilobar Holoprosencephaly
Entry term(s) Holoprosencephalies, Semilobar
Holoprosencephaly, Semilobar
Semilobar Holoprosencephalies
Lobar Holoprosencephaly - Narrower
Concept UI M0336861
Preferred term Lobar Holoprosencephaly
Entry term(s) Holoprosencephalies, Lobar
Holoprosencephaly, Lobar
Lobar Holoprosencephalies
Alobar Holoprosencephaly - Narrower
Concept UI M0336860
Preferred term Alobar Holoprosencephaly
Entry term(s) Alobar Holoprosencephalies
Holoprosencephalies, Alobar
Holoprosencephaly, Alobar
Holoprosencephaly, Familial Alobar
Arhinencephaly - Related but not broader or narrower
Concept UI M0024658
Preferred term Arhinencephaly
Entry term(s) Arhinencephalies



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