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766764008: X-linked distal spinal muscular atrophy type 3 (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
3662542012 X-linked distal spinal muscular atrophy type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662543019 X-linked distal hereditary motor neuropathy type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662544013 X-linked distal spinal muscular atrophy type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662545014 ATP7A (ATPase copper transporting alpha) related distal motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404653012 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404654018 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterised by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662542012 X-linked distal spinal muscular atrophy type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662543019 X-linked distal hereditary motor neuropathy type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662544013 X-linked distal spinal muscular atrophy type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662545014 ATP7A (ATPase copper transporting alpha) related distal motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662546010 A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404653012 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404654018 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterised by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425451001000119 Spinale Muskelatrophie, distale, X-chromosomale, Typ 3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
887801000172119 atrophie musculaire spinale distale liée à ATP7A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959711000172115 atrophie musculaire spinale distale liée à l'X type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
887801000172119 atrophie musculaire spinale distale liée à ATP7A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959711000172115 atrophie musculaire spinale distale liée à l'X type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425451001000119 Spinale Muskelatrophie, distale, X-chromosomale, Typ 3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked distal spinal muscular atrophy type 3 (disorder) Is a Distal spinal muscular atrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal spinal muscular atrophy type 3 (disorder) Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked distal spinal muscular atrophy type 3 (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal spinal muscular atrophy type 3 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked distal spinal muscular atrophy type 3 (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal spinal muscular atrophy type 3 (disorder) Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked distal spinal muscular atrophy type 3 (disorder) Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked distal spinal muscular atrophy type 3 (disorder) Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked distal spinal muscular atrophy type 3 (disorder) Is a X-linked distal hereditary motor neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal spinal muscular atrophy type 3 (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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