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766764008: X-linked distal spinal muscular atrophy type 3 (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3662543019 X-linked distal hereditary motor neuropathy type 3 en Synonym Active Case sensitive SNOMED CT core
3662544013 X-linked distal spinal muscular atrophy type 3 en Synonym Active Case sensitive SNOMED CT core
3662545014 ATP7A (ATPase copper transporting alpha) related distal motor neuropathy en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked distal spinal muscular atrophy type 3 Finding site Nerve structure true Inferred relationship Some 2
X-linked distal spinal muscular atrophy type 3 Finding site Peripheral nervous system structure true Inferred relationship Some 1
X-linked distal spinal muscular atrophy type 3 Is a X-linked distal hereditary motor neuropathy true Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 Is a Distal spinal muscular atrophy true Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 Finding site Structure of nervous system false Inferred relationship Some 1
X-linked distal spinal muscular atrophy type 3 Is a X-linked hereditary disease false Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 Occurrence Congenital false Inferred relationship Some 1
X-linked distal spinal muscular atrophy type 3 Is a Congenital disease false Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 Finding site Structure of nervous system false 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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