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

726608002: paraplégie spastique autosomique récessive type 23 (trouble)


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
3450937012 Autosomal recessive spastic paraplegia type 23 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450938019 Autosomal recessive spastic paraplegia type 23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450939010 Lison syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450940012 Spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450941011 Spastic paraparesis, vitiligo, premature greying, characteristic facies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762121000241113 paraplégie spastique autosomique récessive type 23 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
928091000172119 SPG23 - spastic paraplegia type 23 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
962731000172111 paraplégie spastique autosomique récessive type 23 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
4611839016 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4611840019 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. 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 23 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 (disorder) est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 23 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 (disorder) survenue (attribut) congénital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 23 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 23 (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 23 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 23 (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start