715670004: Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Developmental disorder\Developmental hereditary disorder\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303362013	Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3303367019	Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303368012	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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