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

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Cartilage finding\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\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
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\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
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Congenital disease\Congenital anomaly\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
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Exostosis, anetoderma, brachydactyly type E syndrome
• \Disease\Developmental disorder\Congenital anomaly\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
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Exostosis, anetoderma, brachydactyly type E syndrome

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3499395012	Exostosis, anetoderma, brachydactyly type E syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3633708016	Exostosis, anetodermia, brachydactyly type E syndrome	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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