FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1187466009: Autosomal dominant spastic paraplegia type 9B (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
5399622010 A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399623017 A rare predominantly pure hereditary spastic paraplegia characterised by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4673887017 Autosomal dominant spastic paraplegia type 9B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4673888010 Autosomal dominant spastic paraplegia type 9B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5808071000241111 paraplégie spastique autosomique dominante de type 9B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447071001000114 Spastische Paraplegie, autosomal-dominante, Typ 9B de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Clinical course Progressive true Inferred relationship Some 2
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Finding site Body structure that includes the hip, thigh, leg, ankle and foot. false Inferred relationship Some 3
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Finding site Spinal cord structure true Inferred relationship Some 1
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Associated morphology Degenerative abnormality true Inferred relationship Some 1
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Interprets mouvement false Inferred relationship Some 6
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Interprets Movement observable true Inferred relationship Some 3
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Has interpretation Absent true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

GB English

US English

Back to Start