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763403007: syndrome de paraplégie spastique-lésions cutanées faciales (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3642115010 Spastic paraplegia, facial cutaneous lesion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642116011 Spastic paraplegia, facial cutaneous lesion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642117019 Bahemuka Brown syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
766051000241116 syndrome de paraplégie spastique-lésions cutanées faciales (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
881681000172118 syndrome de paraplégie spastique-lésions cutanées faciales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
925431000172117 syndrome de Bahemuka-Brown fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3642118012 A complex form of hereditary spastic paraplegia with characteristics of delay in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. 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
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 2
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 2
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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