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

1187467000: Autosomal recessive spastic paraplegia type 9B (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4673890011 Autosomal recessive spastic paraplegia type 9B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4673891010 Autosomal recessive spastic paraplegia type 9B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4673892015 A rare complex hereditary spastic paraplegia with characteristics of early onset of slowly progressive spastic para or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature and urinary incontinence. 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 9B est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 9B est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 9B évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 9B localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 9B localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 9B morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start