715428003: Skeletal dysplasia with epilepsy and short stature syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Skeletal dysplasia with epilepsy and short stature syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Skeletal dysplasia with epilepsy and short stature syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with epilepsy and short stature syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature 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\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Skeletal dysplasia with epilepsy and short stature syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Skeletal dysplasia with epilepsy and short stature syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302587011	Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3302589014	Gurrieri Sammito Bellussi syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3304136018	Skeletal dysplasia with epilepsy and short stature syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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