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789674008: Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3791513010 SPOAN and SPOAN-related disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3791514016 Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3791515015 Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3791516019 A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
SPOAN and SPOAN-related disorder survenue (attribut) congénital false Inferred relationship Some 3
SPOAN and SPOAN-related disorder localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
SPOAN and SPOAN-related disorder localisation d'une constatation (attribut) Optic nerve structure true Inferred relationship Some 2
SPOAN and SPOAN-related disorder survenue (attribut) congénital false Inferred relationship Some 1
SPOAN and SPOAN-related disorder survenue (attribut) congénital false Inferred relationship Some 2
SPOAN and SPOAN-related disorder morphologie associée (attribut) Primary atrophy true Inferred relationship Some 2
SPOAN and SPOAN-related disorder est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
SPOAN and SPOAN-related disorder est un(e) (attribut) Hereditary optic atrophy true Inferred relationship Some
SPOAN and SPOAN-related disorder morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
SPOAN and SPOAN-related disorder évolution clinique (attribut) progressif true Inferred relationship Some 4
SPOAN and SPOAN-related disorder est un(e) (attribut) Chronic paraplegia (disorder) false Inferred relationship Some
SPOAN and SPOAN-related disorder localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
SPOAN and SPOAN-related disorder est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
SPOAN and SPOAN-related disorder est un(e) (attribut) Congenital atrophy of optic nerve (disorder) false Inferred relationship Some
SPOAN and SPOAN-related disorder est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive spastic paraplegia type 55 (disorder) est un(e) (attribut) True SPOAN and SPOAN-related disorder Inferred relationship Some
paraplégie spastique autosomique récessive type 57 est un(e) (attribut) True SPOAN and SPOAN-related disorder Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) est un(e) (attribut) True SPOAN and SPOAN-related disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 74 est un(e) (attribut) True SPOAN and SPOAN-related disorder Inferred relationship Some

This concept is not in any reference sets

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