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1187132007: Sugarman brachydactyly (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
4670055018 Sugarman brachydactyly en Synonym Active Case sensitive SNOMED CT core
4670056017 Sugarman Hager Kulik syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sugarman brachydactyly Is a Perodactylia of great toe true Inferred relationship Some
Sugarman brachydactyly Is a Congenital anomaly of finger true Inferred relationship Some
Sugarman brachydactyly Is a Deformity of hand false Inferred relationship Some
Sugarman brachydactyly Is a Developmental hereditary disorder true Inferred relationship Some
Sugarman brachydactyly Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Sugarman brachydactyly Is a Brachydactyly true Inferred relationship Some
Sugarman brachydactyly Is a Longitudinal deficiency of part of upper limb true Inferred relationship Some
Sugarman brachydactyly Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Sugarman brachydactyly Occurrence Congenital true Inferred relationship Some 1
Sugarman brachydactyly Finding site Finger structure true Inferred relationship Some 1
Sugarman brachydactyly Associated morphology Abnormally short growth true Inferred relationship Some 1
Sugarman brachydactyly Pathological process Pathological developmental process true Inferred relationship Some 1
Sugarman brachydactyly Occurrence Congenital true Inferred relationship Some 2
Sugarman brachydactyly Finding site Hallux structure true Inferred relationship Some 2
Sugarman brachydactyly Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Sugarman brachydactyly Pathological process Pathological developmental process true Inferred relationship Some 2
Sugarman brachydactyly Is a Dysostosis true Inferred relationship Some
Sugarman brachydactyly Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Sugarman brachydactyly Occurrence Congenital true Inferred relationship Some 3
Sugarman brachydactyly Finding site Phalanx structure true Inferred relationship Some 3
Sugarman brachydactyly Associated morphology Dysplasia true Inferred relationship Some 3
Sugarman brachydactyly Pathological process Pathological developmental process true Inferred relationship Some 3
Sugarman brachydactyly Is a Congenital deformity of hand true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Strength reference set

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