725417001: 'carbohydrate sulfotransferase 3'-gerelateerde skeletdysplasie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Finding of multiple joints\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of foetus and/or newborn\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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (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)\Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3442466019	Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442467011	CHST3-related skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442468018	Carbohydrate sulfotransferase 3 related skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442469014	Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3 type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6256031000146112	CHST3-gerelateerde skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016391000146110	'carbohydrate sulfotransferase 3'-gerelateerde skeletdysplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016401000146113	'carbohydrate sulfotransferase 3'-gerelateerde skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3442470010	A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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