702400006: Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Bone finding\Disorder of bone\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Joint finding\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Joint finding\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of joint region\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Traumatic or non-traumatic injury\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Traumatic or non-traumatic injury\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995221014	Spondyloepiphyseal dysplasia, Omani type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2995320012	Humero-spinal dysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
2995613012	Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2995736011	Autosomal recessive Larsen syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2995867015	Spondyloepiphyseal dysplasia with congenital joint dislocations	en	Synonym	Active	Case insensitive	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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