702400006: Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding (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)
• \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)
• \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\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\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\Disorder resulting from physical damage to the body\Nontraumatic injury (disorder)\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder resulting from physical damage to the body\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder resulting from physical damage to the body\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\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\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal 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 (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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)\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 (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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\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\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\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
5448901000241118	dysplasie spondyloépiphysaire associée à des luxations articulaires congénitales	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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