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763402002: Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder)


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
3642110017 Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642111018 Spastic paraplegia, neuropathy, poikiloderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642277015 Antinolo Nieto Borrego syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642113015 A complex form of hereditary spastic paraplegia with characteristics of spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. 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, neuropathy, poikiloderma syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder false Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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