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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3642111018 Spastic paraplegia, neuropathy, poikiloderma syndrome en Synonym Active Case insensitive SNOMED CT core
3642277015 Antinolo Nieto Borrego syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, neuropathy, poikiloderma syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spastic paraplegia, neuropathy, poikiloderma syndrome Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome Clinical course Progressive true Inferred relationship Some 3
Spastic paraplegia, neuropathy, poikiloderma syndrome Interprets Movement true Inferred relationship Some 6
Spastic paraplegia, neuropathy, poikiloderma syndrome Finding site Structure of right lower limb true Inferred relationship Some 4
Spastic paraplegia, neuropathy, poikiloderma syndrome Finding site Structure of left lower limb true Inferred relationship Some 5
Spastic paraplegia, neuropathy, poikiloderma syndrome Interprets Movement observable true Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome Has interpretation Absent true Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome Is a Autosomal dominant complex hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome Occurrence Congenital false Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome Finding site Structure of lower limb false Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia, neuropathy, poikiloderma syndrome Associated morphology Degeneration false Inferred relationship Some 1
Spastic paraplegia, neuropathy, poikiloderma syndrome Finding site Spinal cord structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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