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783140003: Pelvic dysplasia, arthrogryposis of lower limbs syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757810018 Pelvic dysplasia, arthrogryposis of lower limbs syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757811019 Ray Peterson Scott syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757812014 Pelvic dysplasia, arthrogryposis of lower limbs syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757813016 A rare genetic dysostosis syndrome with characteristics of intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow small pelvis, lumbar hyperlordosis with scoliosis and foot deformity (short overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs and normal skull and upper limbs. 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
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Occurrence Congenital true Inferred relationship Some 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Associated morphology Contracture true Inferred relationship Some 2
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Occurrence Congenital true Inferred relationship Some 2
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Finding site Bone structure true Inferred relationship Some 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Is a Dysostosis true Inferred relationship Some
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Is a Distal arthrogryposis syndrome true Inferred relationship Some
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Has interpretation Decreased true Inferred relationship Some 3
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Interprets Range of joint movement true Inferred relationship Some 3
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Finding site Structure of joint region of lower limb true Inferred relationship Some 2
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 4
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Associated morphology Contracture true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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