CHARGE Syndrome MeSH Descriptor Data 2025

MeSH Heading: CHARGE Syndrome
Tree Number(s): C09.218.458.341.186.500.250; C10.597.751.418.341.186.500.250; C10.597.751.941.162.625.250; C11.270.147.500; C11.966.075.375.250; C16.131.077.299.250; C16.320.165; C23.888.592.763.393.341.186.500.500; C23.888.592.763.941.162.625.500
Unique ID: D058747
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D058747
Scope Note: 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.
Entry Term(s): CHARGE Association; CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Familial CHARGE Syndrome; Hall-Hittner Syndrome
Public MeSH Note: 2011
History Note: 2011
Date Established: 2011/01/01
Date of Entry: 2010/06/25
Revision Date: 2022/04/13

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Otorhinolaryngologic Diseases [C09]
- Ear Diseases [C09.218]
  - Hearing Disorders [C09.218.458]
    - Hearing Loss [C09.218.458.341]
      - Deafness [C09.218.458.341.186]
        
        Deaf-Blind Disorders [C09.218.458.341.186.500]
        
        CHARGE Syndrome [C09.218.458.341.186.500.250]
        
        Usher Syndromes [C09.218.458.341.186.500.500]
        
        Wolfram Syndrome [C09.218.458.341.186.500.750]

Nervous System Diseases [C10]
- Neurologic Manifestations [C10.597]
  - Sensation Disorders [C10.597.751]
    - Hearing Disorders [C10.597.751.418]
      - Hearing Loss [C10.597.751.418.341]
        
        Deafness [C10.597.751.418.341.186]
        
        Deaf-Blind Disorders [C10.597.751.418.341.186.500]
        
        CHARGE Syndrome [C10.597.751.418.341.186.500.250]
        
        Usher Syndromes [C10.597.751.418.341.186.500.500]
        
        Wolfram Syndrome [C10.597.751.418.341.186.500.750]

Nervous System Diseases [C10]
- Neurologic Manifestations [C10.597]
  - Sensation Disorders [C10.597.751]
    - Vision Disorders [C10.597.751.941]
      - Blindness [C10.597.751.941.162]
        
        Deaf-Blind Disorders [C10.597.751.941.162.625]
        
        CHARGE Syndrome [C10.597.751.941.162.625.250]
        
        Usher Syndromes [C10.597.751.941.162.625.500]
        
        Wolfram Syndrome [C10.597.751.941.162.625.750]

Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
  - Coloboma [C11.270.147]
    - CHARGE Syndrome [C11.270.147.500]
    - Mandibulofacial Dysostosis [C11.270.147.750]

Eye Diseases [C11]
- Vision Disorders [C11.966]
  - Blindness [C11.966.075]
    - Deaf-Blind Disorders [C11.966.075.375]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Abnormalities, Multiple [C16.131.077]
    - Deaf-Blind Disorders [C16.131.077.299]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]

Pathological Conditions, Signs and Symptoms [C23]
- Signs and Symptoms [C23.888]
  - Neurologic Manifestations [C23.888.592]
    - Sensation Disorders [C23.888.592.763]
      - Hearing Disorders [C23.888.592.763.393]
        
        Hearing Loss [C23.888.592.763.393.341]
        
        Deafness [C23.888.592.763.393.341.186]
        
        Deaf-Blind Disorders [C23.888.592.763.393.341.186.500]
        
        CHARGE Syndrome [C23.888.592.763.393.341.186.500.500]

Pathological Conditions, Signs and Symptoms [C23]
- Signs and Symptoms [C23.888]
  - Neurologic Manifestations [C23.888.592]
    - Sensation Disorders [C23.888.592.763]
      - Vision Disorders [C23.888.592.763.941]
        
        Blindness [C23.888.592.763.941.162]
        
        Deaf-Blind Disorders [C23.888.592.763.941.162.625]
        
        CHARGE Syndrome [C23.888.592.763.941.162.625.500]

CHARGE Syndrome Preferred

Familial CHARGE Syndrome Narrower

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