733117001: Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\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)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of thumb\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding (finding)\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of thumb\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\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 (finding)\Joint finding\Arthropathy\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Finding of joint of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\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 (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy\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\Lesion of joint\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\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Arthropathy of joint of hand (disorder)\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Ankylosis of joint\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Ankylosis of upper limb joint\Ankylosis of joint of hand (disorder)\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (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\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital malformation of thumb\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb\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
5403758015	A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403759011	A rare, genetic, congenital limb malformation syndrome characterised by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
5403758015	A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403759011	A rare, genetic, congenital limb malformation syndrome characterised by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428471001000118	Steifer Daumen-Brachydaktylie-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
905501000172115	syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
925171000172110	syndrome de Piussan-Lenaerts-Mathieu	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
905501000172115	syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
925171000172110	syndrome de Piussan-Lenaerts-Mathieu	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428471001000118	Steifer Daumen-Brachydaktylie-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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