702400006: Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)

• SNOMED CT Concept\Clinical finding (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 (disorder)
• \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 (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Traumatic or non-traumatic injury (disorder)\Nontraumatic injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \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 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995221014	Spondyloepiphyseal dysplasia, Omani type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995320012	Humero-spinal dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995613012	Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995736011	Autosomal recessive Larsen syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995867015	Spondyloepiphyseal dysplasia with congenital joint dislocations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702791000052119	spondyloepifysdysplasi med medfödda leddislokationer	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

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