1286833006: Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of back (finding)\Finding of spinal region\Vertebral column finding (finding)\Disorder of vertebral column (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of back (finding)\Finding of spinal region\Vertebral column finding (finding)\Finding of vertebra (finding)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Range of joint movement increased (finding)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of movement\Movement disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Vertebral column finding (finding)\Disorder of vertebral column (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Vertebral column finding (finding)\Finding of vertebra (finding)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Finding of vertebra (finding)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Chronic arthropathy (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Joint laxity\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Chronic arthropathy (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of joint region\Arthropathy\Chronic arthropathy (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Chronic arthropathy (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (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\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Movement disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with joint laxity Beighton 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
5255575016	Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5255576015	Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5255577012	SEMDJL1 - spondyloepimetaphyseal dysplasia with joint laxity type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5255583010	Spondyloepimetaphyseal dysplasia with joint laxity type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400760019	A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400761015	A rare primary bone dysplasia with multiple joint dislocations characterised by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5255575016	Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5255576015	Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5255577012	SEMDJL1 - spondyloepimetaphyseal dysplasia with joint laxity type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5255583010	Spondyloepimetaphyseal dysplasia with joint laxity type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400760019	A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400761015	A rare primary bone dysplasia with multiple joint dislocations characterised by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.	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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