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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of cartilage\Chondrocalcinosis\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\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\Inherited disorder of connective tissue\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of cartilage\Chondrocalcinosis\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\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\Inherited disorder of connective tissue\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital deformity\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital deformity\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
• \Disease\Developmental disorder\Congenital anomaly\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, Primitive. 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	Case insensitive	SNOMED CT core
3662742010	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3662743017	A rare genetic primary bone dysplasia disorder with characteristics of 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 be lethal.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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