715474004: Aplasia of fibula co-occurrent with complex brachydactyly (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Absence of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Finding of limb structure\Finding of lower limb\Absence of lower limb\Absence of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Absence of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Bone finding\Bone absent\Absence of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibular aplasia and complex brachydactyly
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fibular aplasia and complex brachydactyly
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of lower leg\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Fibular aplasia and complex brachydactyly
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Developmental hereditary disorder\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Fibular aplasia and complex brachydactyly
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Fibular aplasia and complex brachydactyly

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302752014	Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302753016	Aplasia of fibula co-occurrent with complex brachydactyly	en	Synonym	Active	Case insensitive	SNOMED CT core
3302754010	Fibular aplasia and complex brachydactyly	en	Synonym	Active	Case insensitive	SNOMED CT core
3302755011	Du Pan syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302760010	Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene.	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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