764437006: Brachydactyly elbow wrist dysplasia (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly elbow wrist dysplasia (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\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (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\Brachydactyly elbow wrist dysplasia (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\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of wrist region\Finding of wrist joint\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of wrist region\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of elbow region\Finding of elbow joint\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of elbow region\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Finding of wrist joint\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Finding of elbow joint\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\Joint finding\Lesion of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Disorder of joint region\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of wrist region (disorder)\Disorder of wrist joint (disorder)\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly elbow wrist dysplasia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Brachydactyly elbow wrist dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649833017	Brachydactyly elbow wrist dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649834011	Brachydactyly elbow wrist dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649835012	Liebenberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3649836013	Brachydactyly with joint dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649600012	Syndrome with abnormal development of the arms resulting in characteristic arm malformations that can vary in severity. Bones in the elbows are abnormally shaped which affects mobility of the joints. Wrist bones are fused forming structures that resemble those in the ankles and heels and causing permanent radial deviation. The metacarpals are longer than normal along with brachydactyly. Life expectancy is normal. The syndrome is caused by genetic changes near the PITX1 gene. Inherited in an autosomal dominant pattern.	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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