Holoprosencephaly Type 1

Preferred Label : Holoprosencephaly Type 1;

NCIt synonyms : Holoprosencephaly 1;

NCIt definition : The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.;

Details

Origin ID

C75476;

UMLS CUI

C0266667;

Automatic exact mappings (from CISMeF team)
- Holoprosencephaly 1 [OMIM Phenotype]
- cyclopia sequence [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- holoprosencephaly 1 [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cyclopia [HPO term]
- Cyclopia [MedDRA Preferred Term]
- Cyclopia (disorder) [SNOMED CT concept]
- Holoprosencephaly 1 [OMIM Phenotype]
- cyclopia sequence [MeSH concept]
- cyclopia sequence [MeSH Supplementary Concept]
- cyclopic monster, nos [SNOMED Notion]
- holoprosencephaly 1 [DO Concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 21 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients