CHARGE syndrome

Preferred Label : CHARGE syndrome;

MeSH definition : Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.;

MeSH synonym : CHARGE syndromes; CHARGE association; CHARGE associations; Hall-Hittner syndrome; hall hittner syndrome; CHARGE Association--Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies;

CISMeF synonym : syndrome, CHARGE; association, CHARGE; associations, CHARGE; syndrome, Hall-Hittner;

MeSH hyponym : familial CHARGE syndrome; CHARGE Syndrome, Familial; CHARGE Syndromes, Familial; Familial CHARGE Syndromes;

Details

Origin ID

D058747;

UMLS CUI

C0265354;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
CISMeF manual mappings
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [ORDO Disease]
- charge association [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 [OMIM Phenotype]
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- CHARGE syndrome [DO Concept]
False automatic mappings
- Combinations (physical object) [SNOMED CT concept]
- 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]
Indexing information
- CHD7 protein, human [MeSH Supplementary Concept]
ORDO relation(s)
- CHARGE syndrome [ORDO Disease]
Record concept(s)
- CHARGE syndrome [MeSH concept]
- familial CHARGE syndrome [MeSH concept]
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]

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