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1172590009: Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4634496013 Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634497016 Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634498014 A rare complex hereditary spastic paraplegia with characteristics of neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5341731000052114 syndrom med kyfoskolios, lateral tungatrofi och ärftlig spastisk paraplegi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a Kyphoscoliosis deformity of spine (disorder) true Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a Chronic paraplegia (disorder) false Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Occurrence Congenital false Inferred relationship Some 1
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Finding site Spinal cord structure true Inferred relationship Some 1
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Occurrence Congenital false Inferred relationship Some 3
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Finding site Lower limb structure false Inferred relationship Some 3
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Finding site Musculoskeletal structure of spine true Inferred relationship Some 2
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Associated morphology Lateral abnormal curvature true Inferred relationship Some 2
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Finding site Musculoskeletal structure of spine true Inferred relationship Some 5
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Associated morphology Anteroposterior abnormal curvature (morphologic abnormality) true Inferred relationship Some 5
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Interprets Movement true Inferred relationship Some 7
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Finding site Structure of right lower limb (body structure) true Inferred relationship Some 3
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Finding site Structure of left lower limb (body structure) true Inferred relationship Some 6
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Interprets Movement observable true Inferred relationship Some 8
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Has interpretation Absent true Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

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