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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
4135571000052118 syndrom med spastisk paraplegi, neuropati och poikiloderma sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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