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1363586001: Preaxial digit brachydactyly, webbed fingers (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5449824013 Preaxial brachydactyly PAX3 type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5449825014 Preaxial digit brachydactyly, webbed fingers (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5449826010 Preaxial digit brachydactyly, webbed fingers en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5449827018 A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5449828011 A rare dysostosis with brachydactyly characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. 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
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Dysostosis true Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Symbrachydactyly of digit of hand (disorder) true Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Genetic disease true Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Occurrence Congenital true Inferred relationship Some 1
Preaxial digit brachydactyly, webbed fingers (disorder) Finding site Entire digit of hand true Inferred relationship Some 1
Preaxial digit brachydactyly, webbed fingers (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Preaxial digit brachydactyly, webbed fingers (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Preaxial digit brachydactyly, webbed fingers (disorder) Occurrence Congenital true Inferred relationship Some 2
Preaxial digit brachydactyly, webbed fingers (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 2
Preaxial digit brachydactyly, webbed fingers (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Preaxial digit brachydactyly, webbed fingers (disorder) Occurrence Congenital true Inferred relationship Some 3
Preaxial digit brachydactyly, webbed fingers (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Preaxial digit brachydactyly, webbed fingers (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Simple syndactyly of fingers true Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Finding of bone in hand true Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Finding site Skin and/or subcutaneous tissue structure of finger (body structure) true Inferred relationship Some 2
Preaxial digit brachydactyly, webbed fingers (disorder) Finding site Bone structure of phalanx of hand true Inferred relationship Some 3
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Structural abnormality of upper limb bone (disorder) true Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Is a Structural abnormality of long bone (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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