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1187191003: Autosomal recessive spastic paraplegia type 74 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4670313019 Autosomal recessive spastic paraplegia type 74 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4670314013 Autosomal recessive spastic paraplegia type 74 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399584018 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399585017 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterised by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. 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 recessive spastic paraplegia type 74 Is a SPOAN and SPOAN-related disorder true Inferred relationship Some
Autosomal recessive spastic paraplegia type 74 Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 74 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 74 Finding site Optic nerve structure true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 74 Associated morphology Primary atrophy true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 74 Occurrence Congenital false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 74 Finding site Spinal cord structure true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 74 Associated morphology Degenerative abnormality true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 74 Occurrence Congenital false Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 74 Finding site Lower limb structure false Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 74 Interprets Movement true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 74 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 74 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 7
Autosomal recessive spastic paraplegia type 74 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 74 Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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