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

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

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

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	SNOMED CT core module
3662742010	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

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