FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Dysostosis true Inferred relationship Some
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. Is a Symbrachydactyly of digit of hand (disorder) true Inferred relationship Some
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. Is a Genetic disease true Inferred relationship Some
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. Occurrence Congenital true Inferred relationship Some 1
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. Finding site Entire digit of hand true Inferred relationship Some 1
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. Associated morphology Abnormally short growth (morphologic abnormality) true Inferred relationship Some 1
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. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
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. Occurrence Congenital true Inferred relationship Some 2
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. Associated morphology Fusion that has occurred in a structure that is not normally fused. true Inferred relationship Some 2
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. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
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. Occurrence Congenital true Inferred relationship Some 3
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. Associated morphology Dysplasia true Inferred relationship Some 3
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. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
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. Is a Simple syndactyly of fingers true Inferred relationship Some
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. Is a Finding of bone in hand true Inferred relationship Some
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. Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
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. Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some
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. Finding site Skin and/or subcutaneous tissue structure of finger (body structure) true Inferred relationship Some 2
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. Finding site Bone structure of phalanx of hand true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start