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1172631001: Autosomal recessive spastic paraplegia type 76 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4634876010 Autosomal recessive spastic paraplegia type 76 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634878011 Autosomal recessive spastic paraplegia type 76 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634877018 A rare complex hereditary spastic paraplegia with characteristics of adult onset slowly progressive mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. 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 76 (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 (disorder) est un(e) (attribut) Chronic paraplegia (disorder) false Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 76 (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 76 (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 76 (disorder) est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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