Single Central Incisor Syndrome

Preferred Label : Single Central Incisor Syndrome;

NCIt related terms : Solitary Central Maxillary Incisor Syndrome; Single Central Maxillary Incisor Syndrome;

Alternative definition : NICHD: An autosomal dominant condition usually caused by mutation(s) in the SHH gene, encoding sonic hedgehog, a secreted protein involved in the organization and morphology of the developing embryo. This condition is characterized by multiple, mainly midline, developmental variations, including the presence of a tooth in the center of the maxillary dental arch in both primary and permanent dentition, and any combination of the following: holoprosencephaly, congenital nasal malformation (choanal atresia, midnasal stenosis, or congenital pyriform aperture stenosis), cleft lip and/or palate, hypopituitarism (including hypothyroidism and hypogonadism, resulting in variations in genital development including small penis or incomplete masculinization in male infants), congenital heart anomalies, and developmental delay.;

NCI Metathesaurus CUI : CL513992;

Details

Origin ID

C131003;

UMLS CUI

C4331291;

CISMeF manual mappings
- Solitary median maxillary central incisor [HPO term]
Currated CISMeF NLP mapping
- Single upper central incisor [MeSH concept]
- Solitary median maxillary central incisor [OMIM Phenotype]
- Solitary median maxillary central incisor syndrome [ORDO Disease]
- Solitary median maxillary central incisor syndrome (disorder) [SNOMED CT concept]
- single upper central incisor [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- SHH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients