Preferred Label : achondroplasia;
MeSH definition : An autosomal dominant disorder that is the most frequent form of short-limb dwarfism.
Affected individuals exhibit short stature caused by rhizomelic shortening of the
limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated
lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online
Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April
20, 2001);
MeSH synonym : achondroplasias;
Related MeSH term : achondroplasia, severe, with developmental delay and acanthosis nigricans; Skeleton-Skin-Brain Syndrome; Skeleton Skin Brain Syndrome; Skeleton-Skin-Brain Syndromes; Syndrome, Skeleton-Skin-Brain; Syndromes, Skeleton-Skin-Brain; Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans; SADDAN; SADDANs; SADDAN Dysplasia; Dysplasia, SADDAN; Dysplasias, SADDAN; SADDAN Dysplasias;
Wikipedia link : https://en.wikipedia.org/wiki/Achondroplasia;
Origin ID : D000130;
UMLS CUI : C0001080;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Manual NTBT mappings (CISMeF)
MedlinePlus topic(s)
ORDO relation(s)
Record concept(s)
Related MeSH Supplementary Concept(s)
SNOMED CT : localisation
See also
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism.
Affected individuals exhibit short stature caused by rhizomelic shortening of the
limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated
lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online
Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April
20, 2001)
https://www.paediatrieschweiz.ch/fr/prise-en-charge-therapeutique-achondroplasie-enfant/
2021
Switzerland
journal article
achondroplasia
Child
achondroplasia
Child
child
Child
child, nos
Achondroplasia
Treatments
Therapeutics
case management
therapeutics
Child
therapeutics
---
https://presse.inserm.fr/un-nouveau-traitement-entre-en-essai-clinique-chez-un-premier-enfant-achondroplase-en-france/42645
2021
false
false
false
France
French
scientific and technical information
achondroplasia
clinical trials as topic
child
france
Infigratinib
phenylurea compounds
pyrimidines
receptor, fibroblast growth factor, type 1
infigratinib
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=15
https://www.orpha.net/data/patho/Han/Int/fr/Achondroplasie_FR_fr_HAN_ORPHA15.pdf
2016
false
France
French
Persons with Disabilities
scientific and technical information
achondroplasia
signs and symptoms
popular works
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=935
France
French
rare diseases
achondroplasia and swiss type agammaglobulinemia
achondroplasia
agammaglobulinemia
---
https://wp.medicalistes.fr/achondroplasie-2/
false
false
France
French
achondroplasia
forum and mailing list for patients
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=429
2008
true
France
French
scientific and technical information
achondroplasia
---
http://www.tousalecole.fr/content/achondroplasie-ou-petite-taille
2004
false
France
French
schools
child
achondroplasia
achondroplasia
signs and symptoms
achondroplasia
Mainstreaming, Education
achondroplasia
popular works
association of patients
---