Preferred Label : X-Linked Intellectual Disability;
MeSH definition : A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated
either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure
of the X chromosome (SEX CHROMOSOME ABERRATIONS).;
MeSH synonym : x-linked mental retardation; retardation, x-linked mental; x-linked mental retardations; x-linked mental retardation syndromes; x linked mental retardation syndromes; x linked mental retardation; x-linked mental retardation disorders; x linked mental retardation disorders; mental retardation, X linked; Disabilities, X-Linked Intellectual; Disability, X-Linked Intellectual; Intellectual Disabilities, X-Linked; Intellectual Disability, X-Linked; X-Linked Intellectual Disabilities; X Linked Intellectual Disability; Mental Retardation, X-Linked;
CISMeF synonym : mental retardation, X-Linked;
Wikipedia link : https://en.wikipedia.org/wiki/X-linked mental retardation;
Origin ID : D038901;
UMLS CUI : C1136249;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Indexing information
Manual NTBT mappings (CISMeF)
Record concept(s)
Related MeSH Supplementary Concept(s)
Semantic type(s)
UMLS correspondences (same concept)
A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated
either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure
of the X chromosome (SEX CHROMOSOME ABERRATIONS).
https://www.has-sante.fr/jcms/p_3148006/fr/syndrome-de-duplication-du-gene-mecp2
2020
false
false
false
France
lubs X-linked mental retardation syndrome
signs and symptoms
lubs X-linked mental retardation syndrome
patient care management
case management
resource guides
lubs X-linked mental retardation syndrome
genetic counseling
patient education as topic
practice guideline
lubs X-linked mental retardation syndrome
X-Linked Intellectual Disability
X-Linked Intellectual Disability
X-Linked Intellectual Disability
X-Linked Intellectual Disability
---
https://www.has-sante.fr/jcms/p_3187176/fr/syndrome-de-allan-herndon-dudley-sahd-mct8-thyroid-hormone-transporter
2020
false
false
false
France
critical pathways
general practice
patient care management
case management
Allan-Herndon-Dudley syndrome
chronic disease
rare diseases
continuity of patient care
resource guides
prognosis
disclosure
Allan-Herndon-Dudley syndrome
Allan-Herndon-Dudley syndrome
genetic counseling
prenatal diagnosis
practice guideline
Allan-Herndon-Dudley syndrome
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
---
http://www.orpha.net/data/patho/PNDS/Syndrome_de_allan_herndon_dudley_FR_fr_PNDS.pdf
2020
false
false
false
France
Allan-Herndon-Dudley syndrome
rare diseases
diagnosis, differential
prognosis
critical pathways
severity of illness index
general practice
truth disclosure
genetic counseling
Allan-Herndon-Dudley syndrome
Allan-Herndon-Dudley syndrome
Allan-Herndon-Dudley syndrome
patient education as topic
continuity of patient care
prenatal diagnosis
practice guideline
Allan-Herndon-Dudley syndrome
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
muscle hypotonia
muscular atrophy
X-Linked Intellectual Disability
---
http://www.lespetitsmecp2.org/
false
false
false
France
French
association of patients
lubs X-linked mental retardation syndrome
X-Linked Intellectual Disability
---
https://www.senat.fr/notice-rapport/2014/r14-472-notice.html
2015
false
false
false
false
France
French
technical report
names
Persons Category
attentiveness
report
better
albumin/globulin ratio
seizures
disease
communicable diseases, emerging
research report
Opitz-Kaveggia syndrome
infectious disease, nos
disease
anus, imperforate
constipation
muscle hypotonia
X-Linked Intellectual Disability
agenesis of corpus callosum
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3062
false
true
false
France
scientific and technical information
X-Linked Intellectual Disability
mental retardation
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=775
false
true
false
France
scientific and technical information
mental retardation
martinique
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3061
2014
false
true
false
France
scientific and technical information
mental retardation
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3059
2014
false
true
false
France
scientific and technical information
mental retardation
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3056
false
true
false
France
scientific and technical information
mental retardation
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3055
false
true
false
France
scientific and technical information
obesity
obesity
young syndrome
mental retardation, X-Linked, with short stature
dwarfism
mental retardation, X-Linked, with short stature
antiphospholipid syndrome
mental retardation
Young Syndrome
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2076
false
true
false
France
scientific and technical information
mental retardation, X-Linked, with epilepsy
epilepsy
mental retardation
mental retardation, X-Linked, with epilepsy
Epilepsy
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3065
France
scientific and technical information
X-Linked Intellectual Disability
mental retardation
medical futility
---
http://www.xtraordinaire.org/
France
French
X-Linked Intellectual Disability
forum and mailing list for patients
association of patients
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=67045
France
French
popular works
rare diseases
X-Linked Intellectual Disability
human growth hormone
Persons with Disabilities
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=52503
France
French
popular works
rare diseases
membrane transport proteins
X-Linked Intellectual Disability
Persons with Disabilities
creatine transporter
creatine deficiency, X-linked
creatine
brain diseases, metabolic, inborn
plasma membrane neurotransmitter transport proteins
scientific and technical information
---
https://anpgm.fr/media/documents/ANPGM_064_Retard_mental_et_deficit_en_GH_SOX3.doc
2009
France
guideline
deficiency, mental
genes, x-linked
linked gene
X-Linked Intellectual Disability
abnormal mental state
intellectual disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=73220
2008
France
French
X-Linked Intellectual Disability
face
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85289
2007
France
scientific and technical information
X-Linked Intellectual Disability
mental retardation
vitalism
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85326
2007
France
scientific and technical information
X-Linked Intellectual Disability
mental retardation
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85327
2007
France
scientific and technical information
acromegaly
mental retardation
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85281
2007
France
French
lubs X-linked mental retardation syndrome
rare diseases
X-Linked Intellectual Disability
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85328
2007
France
French
X-Linked Intellectual Disability
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85276
2007
France
scientific and technical information
X-Linked Intellectual Disability
mental retardation
microvascular angina
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85325
2007
France
scientific and technical information
mental retardation
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85290
2007
France
scientific and technical information
mental retardation
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85293
2007
France
scientific and technical information
mental retardation
X-Linked Intellectual Disability
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85323
2007
France
scientific and technical information
X-Linked Intellectual Disability
mental retardation
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85287
2007
France
French
scientific and technical information
X-Linked Intellectual Disability
siderius X-linked mental retardation syndrome
rare diseases
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85288
2007
France
French
scientific and technical information
X-Linked Intellectual Disability
rare diseases
stocco dos santos syndrome
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3063
2006
France
French
X-Linked Intellectual Disability
rare diseases
snyder robinson syndrome
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=85330
2006
France
French
agenesis of corpus callosum
X-Linked Intellectual Disability
quadriplegia
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3078
2006
France
French
rare diseases
optic atrophy
seizures
X-Linked Intellectual Disability
deafness
X-linked mental retardation gustavson type
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=776
2006
France
French
X-Linked Intellectual Disability
signs and symptoms
X-Linked Intellectual Disability
popular works
Persons with Disabilities
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=777
2006
France
French
popular works
X-Linked Intellectual Disability
X-Linked Intellectual Disability
genetic counseling
biomedical research
Persons with Disabilities
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=847
2006
France
English
French
popular works
signs and symptoms
Persons with Intellectual Disabilities
alpha-Thalassemia
rare diseases
X-Linked Intellectual Disability
ATR-X syndrome
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1193
2006
France
French
X-Linked Intellectual Disability
rare diseases
scientific and technical information
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=3242
2006
France
French
popular works
rare diseases
genetic counseling
Persons with Disabilities
X-Linked Intellectual Disability
X-Linked Intellectual Disability
scientific and technical information
---
http://www.medecinesciences.org/index.php?option=com_article&access=standard&Itemid=129&url=/articles/medsci/abs/2005/09/medsci20052111p947/medsci20052111p947.html
http://dx.doi.org/10.1051/medsci/20052111947
2005
France
French
X-Linked Intellectual Disability
journal article
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1101
2004
true
France
French
stocco dos santos syndrome
scientific and technical information
X-Linked Intellectual Disability
---