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205308004: Triphalangeal thumb (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
314834018 Triphalangeal thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
590654010 Triphalangeal thumb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4884401000241110 triphalangie du pouce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Triphalangeal thumb Is a Congenital anomaly of hand (disorder) false Inferred relationship Some
Triphalangeal thumb Is a Polydactyly of fingers false Inferred relationship Some
Triphalangeal thumb Associated morphology Supernumerary structure false Inferred relationship Some 3
Triphalangeal thumb Finding site Connective tissue false Inferred relationship Some
Triphalangeal thumb Finding site Finger structure false Inferred relationship Some 1
Triphalangeal thumb Occurrence Congenital false Inferred relationship Some 3
Triphalangeal thumb Finding site Musculoskeletal structure of thumb false Inferred relationship Some
Triphalangeal thumb Associated morphology anomalie du développement false Inferred relationship Some
Triphalangeal thumb Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Triphalangeal thumb Is a Disorder of musculoskeletal system (disorder) false Inferred relationship Some
Triphalangeal thumb Is a Finding of musculoskeletal structure of thumb true Inferred relationship Some
Triphalangeal thumb Associated morphology Supernumerary structure true Inferred relationship Some 1
Triphalangeal thumb Finding site Finger structure false Inferred relationship Some 1
Triphalangeal thumb Occurrence Congenital false Inferred relationship Some 2
Triphalangeal thumb Associated morphology anomalie du développement false Inferred relationship Some 2
Triphalangeal thumb Finding site Finger structure false Inferred relationship Some 2
Triphalangeal thumb Finding site Digit structure false Inferred relationship Some 3
Triphalangeal thumb Associated morphology Supernumerary structure false Inferred relationship Some 4
Triphalangeal thumb Is a Polydactyly of thumb false Inferred relationship Some
Triphalangeal thumb Finding site Thumb structure false Inferred relationship Some 4
Triphalangeal thumb Is a Congenital malformation of thumb (disorder) false Inferred relationship Some
Triphalangeal thumb Occurrence Congenital true Inferred relationship Some 1
Triphalangeal thumb Finding site Thumb structure false Inferred relationship Some 1
Triphalangeal thumb Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Triphalangeal thumb Is a Finding of bone in hand true Inferred relationship Some
Triphalangeal thumb Is a Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hyperphalangy is almost always bilateral, and patients present no more than five digits and no other skeletal anomalies. true Inferred relationship Some
Triphalangeal thumb Finding site Bone structure of phalanx of thumb true Inferred relationship Some 1
Triphalangeal thumb Is a Radial polydactyly true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True Triphalangeal thumb Inferred relationship Some
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Is a True Triphalangeal thumb Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome (disorder) Is a True Triphalangeal thumb Inferred relationship Some
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. Is a True Triphalangeal thumb Inferred relationship Some
Triphalangeal thumb and dislocation of patella syndrome (disorder) Is a True Triphalangeal thumb Inferred relationship Some
Triphalangeal deformity of bilateral thumbs (disorder) Is a True Triphalangeal thumb Inferred relationship Some

This concept is not in any reference sets

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