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715710001: Polydactyly of triphalangeal thumb (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303486014 Polydactyly of triphalangeal thumb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303487017 Polydactyly of triphalangeal thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401043011 Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401044017 Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterised by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303486014 Polydactyly of triphalangeal thumb (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303486014 Polydactyly of triphalangeal thumb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303487017 Polydactyly of triphalangeal thumb en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303487017 Polydactyly of triphalangeal thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303489019 Features the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane. Also associated with systemic syndromes including Holt-Oram syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401043011 Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401044017 Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterised by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3418181001000115 Polydaktylie des triphalangealen Daumens de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876201000172111 PPD2 - preaxial polydactyly type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889461000172110 polydactylie d'un pouce triphalangé fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876201000172111 PPD2 - preaxial polydactyly type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889461000172110 polydactylie d'un pouce triphalangé fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418181001000115 Polydaktylie des triphalangealen Daumens de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Polydactyly of triphalangeal thumb (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly of triphalangeal thumb (disorder) Is a Triphalangeal thumb true Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly of triphalangeal thumb (disorder) Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Polydactyly of triphalangeal thumb (disorder) Finding site Thumb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Polydactyly of triphalangeal thumb (disorder) Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Polydactyly of triphalangeal thumb (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Polydactyly of triphalangeal thumb (disorder) Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Polydactyly of triphalangeal thumb (disorder) Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polydactyly of triphalangeal thumb (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polydactyly of triphalangeal thumb (disorder) Finding site Thumb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Polydactyly of triphalangeal thumb (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polydactyly of triphalangeal thumb (disorder) Finding site Bone structure of phalanx of thumb true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polydactyly of triphalangeal thumb (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly of triphalangeal thumb (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Polydactyly of bilateral triphalangeal thumbs (disorder) Is a True Polydactyly of triphalangeal thumb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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