719950001: Triphalangeal thumb and polysyndactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\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
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\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
\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
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome

\Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of thumb\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Triphalangeal thumb and polysyndactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Supernumerary phalanx\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Polysyndactyly\Triphalangeal thumb and polysyndactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Radial polydactyly\Triphalangeal thumb\Triphalangeal thumb and polysyndactyly syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core
3318562015 Triphalangeal thumb and polysyndactyly syndrome en Synonym Active Case insensitive 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 Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Triphalangeal thumb and polysyndactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Triphalangeal thumb and polysyndactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Triphalangeal thumb and polysyndactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Triphalangeal thumb and polysyndactyly syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	1
Triphalangeal thumb and polysyndactyly syndrome	Finding site	Thumb structure	false	Inferred relationship	Some	1
Triphalangeal thumb and polysyndactyly syndrome	Finding site	Bone structure of phalanx of thumb	true	Inferred relationship	Some	1
Triphalangeal thumb and polysyndactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome	Is a	Polysyndactyly	true	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome	Is a	Polysyndactyly syndrome	false	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome	Is a	Triphalangeal thumb	true	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Triphalangeal thumb and polysyndactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Triphalangeal thumb and polysyndactyly syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Triphalangeal thumb and polysyndactyly syndrome	Finding site	Digit structure	true	Inferred relationship	Some	2
Triphalangeal thumb and polysyndactyly syndrome	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	3
Triphalangeal thumb and polysyndactyly syndrome	Finding site	Thumb structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318561010	Triphalangeal thumb and polysyndactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318562015	Triphalangeal thumb and polysyndactyly syndrome	en	Synonym	Active	Case insensitive	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	Inactive	Case sensitive	SNOMED CT core