732956000: Brachydactyly and distal symphalangism syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Deformity (finding)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (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 bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Ankylosis of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Lesion of joint\Ankylosis of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Ankylosis of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (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 bone and joint\Brachydactyly and distal symphalangism syndrome (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\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Ankylosis of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Ankylosis of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (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 bone and joint\Brachydactyly and distal symphalangism syndrome (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\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\déformation d'un os\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (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 bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Symphalangism (disorder)\Distal interphalangeal joint symphalangism\Brachydactyly and distal symphalangism syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\brachyphalangie\Brachymesophalangia\Brachydactyly and distal symphalangism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498441013	Sillence syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498442018	Brachydactyly and distal symphalangism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498443011	Brachydactyly and distal symphalangism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499924013	Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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