722127006: Pacman dysplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteolysis\Pacman dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Pacman dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Pacman dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Pacman dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pacman dysplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pacman dysplasia
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Pacman dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pacman dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Pacman dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Pacman dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Pacman dysplasia
• \Disease\Congenital disease\Pacman dysplasia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330822017	Pacman dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330823010	Pacman dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3330824016	Epiphyseal stippling with osteoclastic hyperplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330825015	Pacman dysplasia has characteristics of epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. The syndrome may be inherited as an autosomal recessive trait. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is 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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