783137003: Radial deficiency, tibial hypoplasia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia 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\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Radial deficiency, tibial hypoplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Radial deficiency, tibial hypoplasia syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757795017	Radial deficiency, tibial hypoplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3757796016	Radial deficiency, tibial hypoplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757794018	A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.	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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