722210007: Parastremmatic dwarfism (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism
• \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\Metatropic dysplasia\Parastremmatic dwarfism
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Parastremmatic dwarfism
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Parastremmatic dwarfism
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Parastremmatic dwarfism
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Parastremmatic dwarfism
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Parastremmatic dwarfism
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Parastremmatic dwarfism
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Developmental disorder\Developmental hereditary disorder\Parastremmatic dwarfism
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metatropic dysplasia\Parastremmatic dwarfism
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metatropic dysplasia\Parastremmatic dwarfism

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331159012	Parastremmatic dwarfism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331160019	Parastremmatic dwarfism	en	Synonym	Active	Case insensitive	SNOMED CT core
3331165012	Parastremmatic dwarfism is a very rare chondrodysplasia with characteristics of severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1).	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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