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719951002: syndrome de pouce triphalangé-brachyectrodactylie (trouble)


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
755061000241119 syndrome de pouce triphalangé-brachyectrodactylie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
900491000172118 syndrome de Carnevale-Hernández-del Castillo fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
920751000172110 syndrome de pouce triphalangé-brachyectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) localisation d'une constatation (attribut) Entire digit of hand true Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) localisation d'une constatation (attribut) phalange du pouce (structure corporelle) true Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) est un(e) (attribut) Triphalangeal thumb true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) est un(e) (attribut) Brachydactyly of hand true Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) morphologie associée (attribut) Supernumerary structure true Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) localisation d'une constatation (attribut) pouce false Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) localisation d'une constatation (attribut) Entire digit of hand false Inferred relationship Some 2
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 3
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) localisation d'une constatation (attribut) pouce false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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