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719951002: Triphalangeal thumb with brachyectrodactyly 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
3318564019 Triphalangeal thumb with brachyectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318565018 Triphalangeal thumb with brachyectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318566017 Carnevale Hernandez del Castillo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402281014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402282019 A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318564019 Triphalangeal thumb with brachyectrodactyly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318564019 Triphalangeal thumb with brachyectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318565018 Triphalangeal thumb with brachyectrodactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318565018 Triphalangeal thumb with brachyectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318566017 Carnevale Hernandez del Castillo syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318566017 Carnevale Hernandez del Castillo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318567014 This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402281014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402282019 A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3410571001000110 Triphalangeale Daumen - Brachyektrodaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
900491000172118 syndrome de Carnevale-Hernández-del Castillo fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
920751000172110 syndrome de pouce triphalangé-brachyectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
900491000172118 syndrome de Carnevale-Hernández-del Castillo fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
920751000172110 syndrome de pouce triphalangé-brachyectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410571001000110 Triphalangeale Daumen - Brachyektrodaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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