719950001: Triphalangeal thumb and polysyndactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of bone in hand\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Finding of musculoskeletal structure of thumb\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of thumb\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of thumb\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Hyperphalangy\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Triphalangeal thumb and polysyndactyly syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of the hand\Congenital malformation of thumb (disorder)\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318561010	Triphalangeal thumb and polysyndactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318562015	Triphalangeal thumb and polysyndactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318563013	A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3901361000052110	syndrom med trifalangeal tumme och polysyndaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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