1286834000: Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of spine (finding)\Curvature of spine\Scoliosis deformity of spine\Scoliosis in skeletal dysplasia\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Scoliosis in skeletal dysplasia\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Finding of back (finding)\Finding of spinal region\Deformity of spine (finding)\Curvature of spine\Scoliosis deformity of spine\Scoliosis in skeletal dysplasia\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Scoliosis in skeletal dysplasia\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \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\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Range of joint movement increased (finding)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Finding of movement (finding)\Movement disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Polyarthropathy associated with another disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy associated with another disorder\Polyarthropathy associated with another disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Joint finding\Joint laxity\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Scoliosis deformity of spine\Scoliosis in skeletal dysplasia\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Polyarthropathy associated with another disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Polyarthropathy associated with another disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (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\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (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\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Polyarthropathy associated with another disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy associated with another disorder\Polyarthropathy associated with another disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (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\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (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\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Scoliosis deformity of spine\Scoliosis in skeletal dysplasia\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Polyarthropathy associated with another disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Polyarthropathy associated with another disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (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\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (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\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Movement disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Scoliosis in skeletal dysplasia\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital dislocation of joint (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5255578019	Spondyloepimetaphyseal dysplasia with joint laxity type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5255579010	Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5255580013	Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5255581012	SEMDJL3 - spondyloepimetaphyseal dysplasia with joint laxity type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5255582017	Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400762010	A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400763017	A rare primary bone dysplasia characterised by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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