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Descriptor English: Holoprosencephaly
Descriptor Spanish: Holoprosencefalia
Descriptor holoprosencefalia
Entry term(s) arrinencefalia
holoprosencefalia alobar
holoprosencefalia lobar
Scope note: Malformaciones de la línea media anterior en el cerebro, cráneo y cara que resultan de un defecto de la segmentación y separación del prosencéfalo embrionario. La prosencefalia alobular es la forma más grave y se caracteriza por anoftalmia, ciclopia, DISCAPACIDAD INTELECTUAL grave, LABIO LEPORINO, FISURA PALATINA, CONVULSIONES y microcefalia. La holoprosencefalia semilobar se caracteriza por hipertelorismo, microftalmia, coloboma, malformaciones nasales, y grados variables de DISCAPACIDAD INTELECTUAL. La holoprosencefalia lobular se asocia con malformaciones faciales leves (o ausencias) y habilidades intelectuales que oscilan entre la DISCAPACIDAD INTELECTUAL leve a normal. La holoprosencefalia se asocia con ANOMALÍAS CROMOSÓMICAS.
Descriptor Portuguese: Holoprosencefalia
Descriptor French: Holoprosencéphalie
Entry term(s): Arhinencéphalie
Holoprosencéphalie alobaire
Holoprosencéphalie alobaire familiale
Holoprosencéphalie lobaire
Holoprosencéphalie semi-lobaire
Holoprosencéphalie semilobaire
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 sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
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
Holoprosencéphalie - Preferred
Concept UI M0024659
Preferred term Holoprosencéphalie
Holoprosencéphalie semilobaire - Narrower
Concept UI M0336862
Preferred term Holoprosencéphalie semilobaire
Entry term(s) Holoprosencéphalie semi-lobaire
Holoprosencéphalie lobaire - Narrower
Concept UI M0336861
Preferred term Holoprosencéphalie lobaire
Holoprosencéphalie alobaire - Narrower
Concept UI M0336860
Preferred term Holoprosencéphalie alobaire
Entry term(s) Holoprosencéphalie alobaire familiale
Arhinencéphalie - Related but not broader or narrower
Concept UI M0024658
Preferred term Arhinencéphalie



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