721017000: Postaxial polydactyly and intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Oliver syndrome
• \Finding of limb structure\Disorder of extremity\...
• \Disorder of digit\Congenital anomaly of digit\Polydactyly\Oliver syndrome
• \Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Oliver syndrome
• \Congenital anomaly of limb\Polymelia\Polydactyly\Oliver syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Oliver syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Oliver syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Oliver syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Oliver syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Oliver syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Oliver syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Oliver syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Oliver syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Oliver syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Oliver syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oliver syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oliver syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Oliver syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Oliver syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Oliver syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Oliver syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Oliver syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Oliver syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Oliver syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Oliver syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Oliver syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Oliver syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Oliver syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Oliver syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Oliver syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Oliver syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Oliver syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Oliver syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Oliver syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Oliver syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Oliver syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Oliver syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Oliver syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Oliver syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323060017	Postaxial polydactyly and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323061018	Postaxial polydactyly and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323062013	Oliver syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323063015	A very rare syndrome with characteristics of intellectual deficit, postaxial polydactyly and epilepsy. To date, seven individuals in three families have been reported. Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded.	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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