711483003: Spinal muscular atrophy with respiratory distress type 1 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy (disorder)\Spinal muscular atrophy with respiratory distress type 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3078675010 Distal spinal muscular atrophy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078677019 Distal hereditary motor neuronopathy type VI en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3078725019 Severe infantile axonal neuropathy with respiratory failure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078729013 Spinal muscular atrophy with respiratory distress type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078769014 Spinal muscular atrophy with respiratory distress type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078773012 Spinal muscular atrophy with respiratory distress en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078857011 Autosomal recessive distal spinal muscular atrophy 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078899012 Diaphragmatic spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinal muscular atrophy with respiratory distress type 1	Is a	Distal spinal muscular atrophy	false	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Spinal muscular atrophy with respiratory distress type 1	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Spinal muscular atrophy with respiratory distress type 1	Finding site	Nerve structure	true	Inferred relationship	Some	2
Spinal muscular atrophy with respiratory distress type 1	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Spinal muscular atrophy with respiratory distress type 1	Is a	Autosomal recessive distal hereditary motor neuropathy (disorder)	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets