Schinzel-Giedion Midface-Retraction Syndrome

Preferred Label : Schinzel-Giedion Midface-Retraction Syndrome;

NCIt related terms : Schinzel-Giedion Syndrome;

NCIt definition : An autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial features, including midface hypoplasia, skeletal abnormalities, and mental retardation.;

Détails

Origin ID

C129308;

UMLS CUI

C0265227;

Currated CISMeF NLP mapping
- Schinzel-Giedion syndrome [MeSH Supplementary Concept]
- Schinzel-Giedion syndrome [ORDO Disease]
- Schinzel-Giedion syndrome [MedDRA Preferred Term]
- Schinzel-Giedion syndrome [MeSH concept]
- Schinzel-Giedion syndrome (disorder) [SNOMED CT concept]
- Schinzel-giedion midface retraction syndrome [OMIM Phenotype]
- schinzel-giedion syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schinzel-Giedion syndrome [ORDO Disease]
- Schinzel-Giedion syndrome [MeSH Supplementary Concept]
- Schinzel-Giedion syndrome [MeSH concept]
- Schinzel-Giedion syndrome [MedDRA Preferred Term]
- Schinzel-Giedion syndrome (disorder) [SNOMED CT concept]
- Schinzel-giedion midface retraction syndrome [OMIM Phenotype]
- schinzel-giedion syndrome [SNOMED Notion]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SETBP1 Gene [NCIt concept]
related_to_genetic_biomarker
- SETBP1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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