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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302753016	Aplasia of fibula co-occurrent with complex brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302754010	Fibular aplasia and complex brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302755011	Du Pan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400919015	A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400920014	A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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