733416004: Exostosis, anetoderma, brachydactyly type E syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\constatation à propos d'un cartilage\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E 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\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E 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\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\affection du cartilage (trouble)\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499394011	Exostosis, anetoderma, brachydactyly type E syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499395012	Exostosis, anetoderma, brachydactyly type E syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3633708016	Exostosis, anetodermia, brachydactyly type E syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499987016	An association reported in a single kindred with characteristics of the variable presence of the following features: anetoderma (macular atrophy of the skin), multiple exostoses and brachydactyly type E. There have been no further descriptions in the literature since 1985.	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)

GB English

US English

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