Holoprosencephaly

Preferred Label : Holoprosencephaly;

NCIt related terms : Holoprosencephaly Sequence;

NCIt definition : A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures.;

Alternative definition : NICHD: Incomplete development of the forebrain that may be associated with midfacial anomalies and pituitary hormone deficiencies.;

Details

Origin ID

C74988;

UMLS CUI

C0079541;

Automatic exact mappings (from CISMeF team)
- Holoprosencephaly [OMIM phenotypic series]
- Lobar holoprosencephaly [ICD-11 More detail]
- Semilobar holoprosencephaly [ICD-11 More detail]
- holoprosencephaly sequence [Radlex concept]
Currated CISMeF NLP mapping
- Holoprosencephaly [ICD-10 Sub-category]
- Holoprosencephaly [ACR pathology]
- Holoprosencephaly [ICD-11 Subcategory]
- Holoprosencephaly [ICD-10 Sub-category (who)]
- Holoprosencephaly [HPO term]
- Holoprosencephaly [MedDRA Preferred Term]
- Holoprosencephaly [ORDO Disease]
- Holoprosencephaly 1 [OMIM Phenotype]
- Holoprosencephaly sequence (disorder) [SNOMED CT concept]
- holoprosencephaly [Disease (Nov.)]
- holoprosencephaly [DO Concept]
- holoprosencephaly [MeSH Descriptor]
- holoprosencephaly [MeSH concept]
- holoprosencephaly sequence [SNOMED Notion]
DO Cross reference
- holoprosencephaly [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly [ICD-10 Sub-category]
- Holoprosencephaly [HPO term]
- Holoprosencephaly [ICD-11 Subcategory]
- Holoprosencephaly [ICD-10 Sub-category (who)]
- Holoprosencephaly [MedDRA Preferred Term]
- Holoprosencephaly sequence (disorder) [SNOMED CT concept]
- holoprosencephaly [DO Concept]
- holoprosencephaly [MeSH concept]
- holoprosencephaly [MeSH Descriptor]
- holoprosencephaly sequence [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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