721094006: Diaphanospondylodysostosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diaphanospondylodysostosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diaphanospondylodysostosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Diaphanospondylodysostosis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Developmental disorder\Developmental hereditary disorder\Diaphanospondylodysostosis
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Diaphanospondylodysostosis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323478016	Diaphanospondylodysostosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323479012	Diaphanospondylodysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3323480010	Diaphanospondylodysostosis has characteristics of absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests and cleft palate. As some patients were born to consanguineous parents, this disorder is likely to be transmitted as an autosomal recessive trait. The patients are stillborn or die soon after birth of respiratory insufficiency.	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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