FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

725139005: Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3439365018 Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3439366017 Spastic paraplegia, optic atrophy, neuropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3439367014 SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439368016 A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3991861000052118 syndrom med spastisk paraplegi, optikusatrofi och neuropati 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
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Hereditary optic atrophy false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Hereditary motor and sensory neuropathy (disorder) false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Congenital atrophy of optic nerve (disorder) false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Peripheral nervous system structure false Inferred relationship Some 4
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology degeneration false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Spinal cord structure false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Cerebellar structure false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology Primary atrophy false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Optic nerve structure false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology degeneration false Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a SPOAN and SPOAN-related disorder true Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Lower limb structure true Inferred relationship Some 3
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Optic nerve structure true Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology Primary atrophy true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start