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732957009: syndrome de brachydactylie préaxiale-hallux varus (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498444017 Brachydactyly and preaxial hallux varus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498445016 Brachydactyly and preaxial hallux varus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
762741000241116 syndrome de brachydactylie préaxiale-hallux varus (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
978191000172117 syndrome de brachydactylie préaxiale-hallux varus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3499925014 The association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. The syndrome has been described in eight affected individuals from four successive generations of one family. Intellectual deficit was observed in all reported individuals. Transmission appears to be 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
Brachydactyly and preaxial hallux varus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachydactyly and preaxial hallux varus syndrome survenue (attribut) congénital true Inferred relationship Some 1
Brachydactyly and preaxial hallux varus syndrome localisation d'une constatation (attribut) Joint of hallux true Inferred relationship Some 1
Brachydactyly and preaxial hallux varus syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome morphologie associée (attribut) Varus deformity (morphologic abnormality) true Inferred relationship Some 1
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) brachydactylie true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) Congenital hallux varus true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) Mental retardation false Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome survenue (attribut) congénital true Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome localisation d'une constatation (attribut) Entire digit true Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome morphologie associée (attribut) Congenital varus deformity false Inferred relationship Some 3
Brachydactyly and preaxial hallux varus syndrome survenue (attribut) congénital false Inferred relationship Some 3
Brachydactyly and preaxial hallux varus syndrome localisation d'une constatation (attribut) Joint of hallux false Inferred relationship Some 3
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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