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)
Validated automatic mappings to BTNT
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
---