De Sanctis-Cacchione Syndrome

Preferred Label : De Sanctis-Cacchione Syndrome;

NCIt definition : A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.;

Details

Origin ID

C84666;

UMLS CUI

C0265201;

Currated CISMeF NLP mapping
- De Sanctis Cacchione syndrome [PASCAL descriptor]
- De Sanctis Cacchione syndrome [Disease (Nov.)]
- De Sanctis-Cacchione syndrome [MeSH concept]
- De Sanctis-Cacchione syndrome [ORDO Disease]
- De sanctis-cacchione syndrome [OMIM Phenotype]
- Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) [Inactive SNOMED CT concept]
- de Sanctis-Cacchione syndrome [MeSH Supplementary Concept]
- desanctis-cacchione syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- De Sanctis Cacchione syndrome [PASCAL descriptor]
- De Sanctis Cacchione syndrome [Disease (Nov.)]
- De Sanctis-Cacchione syndrome [ORDO Disease]
- De Sanctis-Cacchione syndrome [MeSH concept]
- De Sanctis-Cacchione syndrome [DO Concept]
- De sanctis-cacchione syndrome [OMIM Phenotype]
- Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) [Inactive SNOMED CT concept]
- de Sanctis-Cacchione syndrome [MeSH Supplementary Concept]
- desanctis-cacchione syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ERCC6 Gene [NCIt concept]
related_to_genetic_biomarker
- ERCC6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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