874931001: Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\Disorder of keratinisation\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of epiphysis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Acanthosis nigricans\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\trouble du développement\retard de développement\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\achondrogenèse (trouble)\Achondroplasia\Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3983331015	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3983332010	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3983333017	SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3983334011	Syndrome with the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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