FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

1187132007: Sugarman brachydactyly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4670054019 Sugarman brachydactyly (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4670055018 Sugarman brachydactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4670056017 Sugarman Hager Kulik syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4670057014 A rare genetic congenital limb malformation with characteristics of brachydactyly of fingers with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. 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
Sugarman brachydactyly (disorder) est un(e) (attribut) Perodactylia of great toe true Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) Congenital anomaly of finger true Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) déformation d'une main false Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) brachydactylie true Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) Longitudinal deficiency of part of upper limb (disorder) true Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Sugarman brachydactyly (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Sugarman brachydactyly (disorder) localisation d'une constatation (attribut) doigt de la main, sauf le pouce true Inferred relationship Some 1
Sugarman brachydactyly (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 1
Sugarman brachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Sugarman brachydactyly (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Sugarman brachydactyly (disorder) localisation d'une constatation (attribut) Hallux structure true Inferred relationship Some 2
Sugarman brachydactyly (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Sugarman brachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Sugarman brachydactyly (disorder) est un(e) (attribut) Dysostosis true Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Sugarman brachydactyly (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Sugarman brachydactyly (disorder) localisation d'une constatation (attribut) Phalanx structure true Inferred relationship Some 3
Sugarman brachydactyly (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Sugarman brachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Sugarman brachydactyly (disorder) est un(e) (attribut) Congenital deformity of hand (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start