Počet záznamov: 1
holoprozencefália
Č. záznamu d016142 Dátum 06.06.2025 Typ M - MESH Tematický termín holoprozencefália Iný termín Angličtina (Pseudonym) Alobar Holoprosencephaly
Angličtina (Pseudonym) Arhinencephaly
Angličtina (Pseudonym) Lobar Holoprosencephaly
Angličtina (Pseudonym) Semilobar Holoprosencephaly
Slovenčina (Pseudonym) holoprozencefália alobárna
Slovenčina (Pseudonym) arinencefália
Slovenčina (Pseudonym) syndróm arinencefalický
Slovenčina (Pseudonym) holoprozencefália lobárna
Slovenčina (Pseudonym) holoprozencefália semilobárna
MDT C05.660.207.410C10.500.034.875C16.131.077.410C16.131.260.380C16.131.621.207.410C16.131.666.034.875C16.320.180.380 Poznámka 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. 
predmetové heslo
Počet záznamov: 1