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770946000: oligodactylie postaxiale tétramélique (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3703560010 Postaxial tetramelic oligodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3703561014 Postaxial tetramelic oligodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
770091000241117 oligodactylie postaxiale tétramélique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
916691000172116 oligodactylie postaxiale tétramélique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3703562019 A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. 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
Postaxial tetramelic oligodactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Postaxial tetramelic oligodactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Postaxial tetramelic oligodactyly morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Postaxial tetramelic oligodactyly est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Postaxial tetramelic oligodactyly morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Postaxial tetramelic oligodactyly est un(e) (attribut) Congenital anomaly of limb true Inferred relationship Some
Postaxial tetramelic oligodactyly est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Postaxial tetramelic oligodactyly est un(e) (attribut) Dysostosis true Inferred relationship Some
Postaxial tetramelic oligodactyly survenue (attribut) congénital true Inferred relationship Some 1
Postaxial tetramelic oligodactyly est un(e) (attribut) Congenital absence of skeletal bone true Inferred relationship Some
Postaxial tetramelic oligodactyly est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Postaxial tetramelic oligodactyly survenue (attribut) congénital true Inferred relationship Some 2
Postaxial tetramelic oligodactyly localisation d'une constatation (attribut) Bone structure of extremity true Inferred relationship Some 2
Postaxial tetramelic oligodactyly morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Postaxial tetramelic oligodactyly morphologie associée (attribut) Congenital absence false Inferred relationship Some 1
Postaxial tetramelic oligodactyly localisation d'une constatation (attribut) Entire bone of extremity true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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