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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of bone of lower limb (finding)\Absence of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Absence of lower limb (finding)\Absence of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of lower limb (finding)\Absence of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Bone absent\Absence of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Bone absent\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\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 co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\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 co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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 co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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 co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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 co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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 co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital absence of fibula\Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence 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
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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