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

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
4670316010 A rare genetic spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder with characteristics of 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 est un(e) (attribut) SPOAN and SPOAN-related disorder true Inferred relationship Some
Autosomal recessive spastic paraplegia type 74 évolution clinique (attribut) progressif true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 74 survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 74 localisation d'une constatation (attribut) Optic nerve structure true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 74 morphologie associée (attribut) Primary atrophy true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 74 survenue (attribut) congénital false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 74 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 74 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 74 survenue (attribut) congénital false Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 74 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start