733117001: syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability 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\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability 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\Thumb stiffness, brachydactyly, intellectual disability 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 malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability 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\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (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\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Finding of thumb\Finding of musculoskeletal structure of thumb\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\constatation à propos de la structure musculosquelettique d'un doigt de la main\Finding of musculoskeletal structure of thumb\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de la structure musculosquelettique d'un doigt de la main\Finding of musculoskeletal structure of thumb\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Lesion of joint\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability 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\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Thumb stiffness, brachydactyly, intellectual disability 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
3498793014	Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498794015	Thumb stiffness, brachydactyly, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498795019	Piussan Lenaerts Mathieu syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
762991000241113	syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
905501000172115	syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
925171000172110	syndrome de Piussan-Lenaerts-Mathieu	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3499985012	Syndrome with characteristics of intellectual deficit, mild dysmorphism, type A brachydactyly, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.	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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