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1187465008: Autosomal dominant spastic paraplegia type 9A (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4673878014 Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4673879018 Autosomal dominant spastic paraplegia type 9A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4673882011 Autosomal dominant spastic paraplegia type 9A (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4674026017 Spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4674027014 Spastic paraparesis, amyotrophy, cataracts, gastro-oesophageal reflux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399620019 A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399621015 A rare complex hereditary spastic paraplegia characterised by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastro-oesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others. 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
Autosomal dominant spastic paraplegia type 9A Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 9A Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 9A Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 9A Finding site Lower limb structure false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 9A Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 9A Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 9A Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 9A Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 9A Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 9A Interprets Movement observable true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 9A Has interpretation Absent true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 9A Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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