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1156840002: X-linked distal hereditary motor neuropathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4576305012 X-linked distal hereditary motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4576306013 X-linked distal hereditary motor neuropathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4576305012 X-linked distal hereditary motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4576306013 X-linked distal hereditary motor neuropathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked distal hereditary motor neuropathy Is a X-linked hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal hereditary motor neuropathy Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked distal hereditary motor neuropathy Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal hereditary motor neuropathy Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked distal hereditary motor neuropathy Is a Peripheral motor neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
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 X-linked distal hereditary motor neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal spinal muscular atrophy type 3 (disorder) Is a True X-linked distal hereditary motor neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal arthrogryposis multiplex congenita (disorder) Is a True X-linked distal hereditary motor neuropathy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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