de Sanctis-Cacchione syndrome

Preferred Label : de Sanctis-Cacchione syndrome;

MeSH synonym : xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia; xerodermic idiocy of de sanctis and cacchione; Desanctis-Cacchione syndrome;

Is substance : O;

Details

Origin ID

C535992;

UMLS CUI

C0265201;

Automatic exact mappings (from CISMeF team)
- Cerebral Blood Flow [NCIt concept]
- Cerebral blood flow (observable entity) [SNOMED CT concept]
- De Sanctis-Cacchione syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- De Sanctis Cacchione syndrome [PASCAL descriptor]
- De Sanctis Cacchione syndrome [Disease (Nov.)]
- De Sanctis-Cacchione Syndrome [NCIt 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]
- desanctis-cacchione syndrome [SNOMED Notion]
Has phenotype(s) (HPO)
- Cerebral and olivopontocerebellar atrophy [HPO term]
- Dwarfism [HPO term]
- Low intelligence [HPO term]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- xeroderma pigmentosum [MeSH Descriptor]
ORDO relation(s)
- De Sanctis-Cacchione syndrome [ORDO Disease]
Record concept(s)
- De Sanctis-Cacchione syndrome [MeSH concept]
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 [NCIt concept]
- De Sanctis-Cacchione syndrome [ORDO Disease]
- 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]
- desanctis-cacchione syndrome [SNOMED Notion]

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