holoprosencephaly

Preferred Label : holoprosencephaly;

MeSH definition : 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.;

MeSH synonym : holoprosencephalies;

MeSH hyponym : lobar holoprosencephaly; semilobar holoprosencephaly; alobar holoprosencephaly; Holoprosencephalies, Semilobar; Holoprosencephaly, Semilobar; Semilobar Holoprosencephalies; Holoprosencephalies, Lobar; Holoprosencephaly, Lobar; Lobar Holoprosencephalies; Alobar Holoprosencephalies; Holoprosencephalies, Alobar; Holoprosencephaly, Alobar; Holoprosencephaly, Familial Alobar;

Related MeSH term : arhinencephaly; Arhinencephalies;

Wikipedia link : https://en.wikipedia.org/wiki/Holoprosencephaly;

Details

Origin ID

D016142;

UMLS CUI

C0079541;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Alobar holoprosencephaly [ICD-11 More detail]
- Alobar holoprosencephaly [HPO term]
- Alobar holoprosencephaly [ORDO Disease]
- Alobar holoprosencephaly (disorder) [SNOMED CT concept]
- Arhinencephaly [PASCAL descriptor]
- Arhinencephaly [ICD-10 Sub-category]
- Arhinencephaly [MedDRA Preferred Term]
- Holoprosencephaly [OMIM phenotypic series]
- Lobar holoprosencephaly [ICD-11 More detail]
- Lobar holoprosencephaly [HPO term]
- Lobar holoprosencephaly [ORDO Disease]
- Lobar holoprosencephaly (disorder) [SNOMED CT concept]
- Microform holoprosencephaly [ICD-11 More detail]
- Semi-lobar holoprosencephaly (disorder) [SNOMED CT concept]
- Semilobar holoprosencephaly [ICD-11 More detail]
- Semilobar holoprosencephaly [HPO term]
- Semilobar holoprosencephaly [ORDO Disease]
- alobar holoprosencephaly [Radlex concept]
- holoprosencephaly sequence [Radlex concept]
- lobar holoprosencephaly [Radlex concept]
Currated CISMeF NLP mapping
- Arrhinencephaly [ICD-11 Subcategory]
- Holoprosencephaly [ICD-10 Sub-category]
- Holoprosencephaly [ICD-10 Sub-category (who)]
- Holoprosencephaly [ACR pathology]
- Holoprosencephaly [ICD-11 Subcategory]
- Holoprosencephaly [HPO term]
- Holoprosencephaly [MedDRA Preferred Term]
- Holoprosencephaly [NCIt concept]
- Holoprosencephaly [ORDO Disease]
- Holoprosencephaly 1 [OMIM Phenotype]
- Holoprosencephaly sequence (disorder) [SNOMED CT concept]
- holoprosencephaly [DO Concept]
- holoprosencephaly [Disease (Nov.)]
- holoprosencephaly sequence [SNOMED Notion]
DO Cross reference
- holoprosencephaly [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- Arhinencephaly [ICD-10 Sub-category (who)]
False automatic mappings
- Arhinencephaly [ICD-10 Sub-category (who)]
- Arrhinencephaly [HPO term]
HPO term
- Alobar holoprosencephaly [HPO term]
- Arrhinencephaly [HPO term]
- Holoprosencephaly [HPO term]
- Lobar holoprosencephaly [HPO term]
- Semilobar holoprosencephaly [HPO term]
Manual BTNT mappings - CISMeF
- Midline interhemispheric variant of holoprosencephaly [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Cerebral malformation with epilepsy [ORDO Disease]
- Disease associated with non-acquired combined pituitary hormone deficiency [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Non-syndromic central nervous system malformation [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
ORDO relation(s)
- Holoprosencephaly [ORDO Disease]
Record concept(s)
- alobar holoprosencephaly [MeSH concept]
- arhinencephaly [MeSH concept]
- holoprosencephaly [MeSH concept]
- lobar holoprosencephaly [MeSH concept]
- semilobar holoprosencephaly [MeSH concept]
Related MeSH Supplementary Concept(s)
- Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence [MeSH Supplementary Concept]
- Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate [MeSH Supplementary Concept]
- cyclopia sequence [MeSH Supplementary Concept]
- dysgnathia complex [MeSH Supplementary Concept]
- genoa syndrome [MeSH Supplementary Concept]
- holoprosencephaly 10 [MeSH Supplementary Concept]
- holoprosencephaly 2 [MeSH Supplementary Concept]
- holoprosencephaly 3 [MeSH Supplementary Concept]
- holoprosencephaly 4 [MeSH Supplementary Concept]
- holoprosencephaly 5 [MeSH Supplementary Concept]
- holoprosencephaly 6 [MeSH Supplementary Concept]
- holoprosencephaly 7 [MeSH Supplementary Concept]
- holoprosencephaly 8 [MeSH Supplementary Concept]
- holoprosencephaly 9 [MeSH Supplementary Concept]
- holoprosencephaly, recurrent infections, and monocytosis [MeSH Supplementary Concept]
- lambotte syndrome [MeSH Supplementary Concept]
- microgastria limb reduction defect [MeSH Supplementary Concept]
- nonsyndromic holoprosencephaly [MeSH Supplementary Concept]
- pseudotrisomy 13 syndrome [MeSH Supplementary Concept]
- steinfeld syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly [ICD-10 Sub-category (who)]
- Holoprosencephaly [ICD-10 Sub-category]
- Holoprosencephaly [HPO term]
- Holoprosencephaly [MedDRA Preferred Term]
- Holoprosencephaly [ICD-11 Subcategory]
- Holoprosencephaly [NCIt concept]
- Holoprosencephaly sequence (disorder) [SNOMED CT concept]
- holoprosencephaly [DO Concept]
- holoprosencephaly sequence [SNOMED Notion]
Validated automatic mappings to BTNT
- Alobar holoprosencephaly [HPO term]
- Alobar holoprosencephaly [ORDO Disease]
- Lobar holoprosencephaly [HPO term]
- Lobar holoprosencephaly [ORDO Disease]
- Semilobar holoprosencephaly [HPO term]

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