764857004: Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb 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\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655337013	Absent tibia polydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3655338015	Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3655339011	Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655359010	A rare genetic dysostosis syndrome with marked inter and intra-familial variation with typical characteristics of triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.	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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