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1187132007: Sugarman-brachydactylie (aandoening)


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
13250501000146117 syndroom van Sugarman-Hager-Kulik nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13308931000146117 Sugarman-brachydactylie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13308941000146113 Sugarman-Hager-Kulik-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13308951000146111 Sugarman-brachydactylie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Is a Perodactylia of great toe true Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Congenital anomaly of finger false Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Deformity of hand false Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Brachydactyly true Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Longitudinal deficiency of part of upper limb (disorder) true Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Sugarman brachydactyly (disorder) Occurrence Congenital true Inferred relationship Some 1
Sugarman brachydactyly (disorder) Finding site Finger structure true Inferred relationship Some 1
Sugarman brachydactyly (disorder) Associated morphology 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) Occurrence Congenital true Inferred relationship Some 2
Sugarman brachydactyly (disorder) Finding site Great toe structure (body structure) true Inferred relationship Some 2
Sugarman brachydactyly (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Sugarman brachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Sugarman brachydactyly (disorder) Is a Dysostosis true Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Sugarman brachydactyly (disorder) Occurrence Congenital true Inferred relationship Some 3
Sugarman brachydactyly (disorder) Finding site Phalanx structure true Inferred relationship Some 3
Sugarman brachydactyly (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Sugarman brachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Sugarman brachydactyly (disorder) Is a Congenital deformity of hand (disorder) false Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some
Sugarman brachydactyly (disorder) Is a Reduction deformity of finger (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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