About: http://www.idref.fr/040655830/id

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Attributes	Values
type	Concept
seeAlso	http://www.idref.fr/114604835/id
sameAs	http://id.nlm.nih.gov/mesh/D000130
notation	C05.116.099.343.110 C05.116.099.708.017 C16.320.240.500
alternative label	Chondrodystrophie foetale Dysplasias, SADDAN Dysplasie de type SADDAN Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans SADDAN Dysplasia SADDAN Dysplasias SADDANs Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Achondroplasias Dysplasia, SADDAN Maladie de Parrot SADDAN Skeleton-Skin-Brain Syndrome Skeleton-Skin-Brain Syndromes Syndromes, Skeleton-Skin-Brain Achondroplasie sévère avec retard du développement et acanthosis nigricans Severe achondroplasia with developmental delay and acanthosis nigricans Achondroplasia Nanisme achondroplasique Skeleton Skin Brain Syndrome Syndrome, Skeleton-Skin-Brain
preferred label	Achondroplasie
is in scheme	http://id.nlm.nih.gov/mesh
note	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)
is seeAlso of	http://www.idref.fr/114604835/id
is primary topic of	http://www.idref.fr/040655830
is Subject of	http://www.sudoc.fr/19744007X/id http://www.sudoc.fr/193653680/id http://www.sudoc.fr/025674439/id http://www.sudoc.fr/183862171/id Travaux et mémoires http://www.sudoc.fr/109727673/id http://www.sudoc.fr/118161067/id http://www.sudoc.fr/144407825/id http://www.sudoc.fr/140399011/id http://www.sudoc.fr/187748306/id Hypophyse et achondroplasie http://www.sudoc.fr/129903973/id http://www.sudoc.fr/249923734/id http://www.sudoc.fr/26452098X/id http://www.sudoc.fr/23833368X/id Spécialité de pédiatrie http://www.sudoc.fr/219804966/id http://www.sudoc.fr/22693487X/id Un nouveau modèle pour étudier la physiopathologie des chondrodysplasies liées à la FGFR3 http://www.sudoc.fr/247171727/id http://www.sudoc.fr/242392296/id http://www.sudoc.fr/281193452/id http://www.sudoc.fr/276607457/id Evaluation du paramètre échographique anténatal fémur court isolé comme marqueur prédictif de malformation foetale, étude rétrospective sur 270 nouveau-nés http://www.sudoc.fr/280553137/id

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