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230247001: Distal spinal muscular atrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
345060017 Distal spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
618029018 Distal spinal muscular atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
345060017 Distal spinal muscular atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
345060017 Distal spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
618029018 Distal spinal muscular atrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
618029018 Distal spinal muscular atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3423011001000114 Neuropathie, distale hereditäre motorische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4957421000241112 amyotrophie spinale distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4957421000241112 amyotrophie spinale distale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423011001000114 Neuropathie, distale hereditäre motorische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal spinal muscular atrophy (disorder) Is a Spinal muscular atrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Distal spinal muscular atrophy (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal spinal muscular atrophy (disorder) Finding site Motor neuron (cell) false Inferred relationship Existential restriction modifier (core metadata concept)
Distal spinal muscular atrophy (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal spinal muscular atrophy (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Spinal muscular atrophy with respiratory distress type 1 Is a False Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a True Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant congenital benign spinal muscular atrophy Is a True Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal hereditary motor neuropathy Jerash type (disorder) Is a False Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal spinal muscular atrophy type 3 (disorder) Is a True Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive distal spinal muscular atrophy type 3 Is a False Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal hereditary motor neuropathy type 1 (disorder) Is a True Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. Is a True Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal hereditary motor neuropathy type 7 (disorder) Is a True Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive lower motor neuron disease with childhood onset Is a True Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Young adult-onset distal hereditary motor neuropathy Is a False Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) Is a True Distal spinal muscular atrophy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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