766821006: Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Deformity (finding)\Congenital deformity\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Cartilage finding\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Cartilage finding\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Degenerative disorder\Calcinosis\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (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, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662741015	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662742010	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404677018	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404678011	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterised by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	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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