CHARGE syndrome

Preferred Label : CHARGE syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0530381;

UMLS CUI

C0265354;

Automatic exact mappings (from CISMeF team)
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- LE syndrome [MedDRA LLT]
- Milles' syndrome [MedDRA LLT]
- Syndrome [NCIt concept]
- cluster headache [SNOMED Notion]
- disease, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- CHARGE Syndrome [NCIt concept]
- CHARGE syndrome [PASCAL descriptor]
- CHARGE syndrome [DO Concept]
- CHARGE syndrome [Disease (Nov.)]
- CHARGE syndrome [ICD-11 More detail]
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [ORDO Disease]
- Charge syndrome [OMIM Phenotype]
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) [SNOMED CT concept]
- charge association [SNOMED Notion]
False automatic mappings
- Diethylstilbestrol syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Anophthalmia, clinical [HPO term]
- Deafness [HPO term]
- Feeding difficulties [HPO term]
- Gonadotropin deficiency [HPO term]
- Hypoplastic male genitalia [HPO term]
- Isolated cases [HPO term]
- Sloping shoulders [HPO term]
MeSH narrower concept(s)
- familial CHARGE syndrome [MeSH concept]
Related record
- CHARGE syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHARGE Syndrome [NCIt concept]
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [ORDO Disease]
- CHARGE syndrome [DO Concept]
- CHARGE syndrome [PASCAL descriptor]
- CHARGE syndrome [Disease (Nov.)]
- Charge syndrome [OMIM Phenotype]
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) [SNOMED CT concept]
- charge association [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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