Search
Descriptor English: CHARGE Syndrome
Descriptor Spanish: Síndrome CHARGE
Descriptor síndrome CHARGE
Entry term(s) asociación CHARGE
coloboma, anomalía cardiaca, atresia de coanas, retraso y anomalías genitales y de oído
síndrome CHARGE familiar
Scope note: Enfermedad rara caracterizada por COLOBOMA, ATRESIA DE COANAS y CONDUCTOS SEMICIRCULARES anormales. Se asocian con el síndrome de Charge mutaciones en la proteína CHD7 que dan lugar a una alteración en el desarrollo de la cresta neural.
Descriptor Portuguese: Síndrome CHARGE
Descriptor French: Syndrome CHARGE
Entry term(s): Association, CHARGE
Associations, CHARGE
CHARGE Association
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
CHARGE Associations
CHARGE Syndrome, Familial
CHARGE Syndromes
CHARGE Syndromes, Familial
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
Familial CHARGE Syndrome
Familial CHARGE Syndromes
Hall Hittner Syndrome
Hall-Hittner Syndrome
Syndrome, CHARGE
Syndrome, Hall-Hittner
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
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2011
History Note: 2011
DeCS ID: 53996
Unique ID: D058747
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2011/01/01
Date of Entry: 2010/06/25
Revision Date: 2018/06/15
CHARGE Syndrome - Preferred
Concept UI M0530381
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.
Preferred term CHARGE Syndrome
Entry term(s) Association, CHARGE
Associations, CHARGE
CHARGE Association
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
CHARGE Associations
CHARGE Syndromes
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
Hall Hittner Syndrome
Hall-Hittner Syndrome
Syndrome, CHARGE
Syndrome, Hall-Hittner
Familial CHARGE Syndrome - Narrower
Concept UI M0544391
Preferred term Familial CHARGE Syndrome
Entry term(s) CHARGE Syndrome, Familial
CHARGE Syndromes, Familial
Familial CHARGE Syndromes



We want your feedback on the new DeCS / MeSH website

We invite you to complete a survey that will take no more than 3 minutes.

Go to survey