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1156850001: Autosomal recessive 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
4578680015 Autosomal recessive distal hereditary motor neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4578681016 Autosomal recessive distal hereditary motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5797741000241115 neuropathie motrice distale héréditaire autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive distal hereditary motor neuropathy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive distal hereditary motor neuropathy (disorder) Is a Peripheral motor neuropathy true Inferred relationship Some
Autosomal recessive distal hereditary motor neuropathy (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Autosomal recessive distal hereditary motor neuropathy (disorder) Finding site Nerve structure true Inferred relationship Some 1
Autosomal recessive distal hereditary motor neuropathy (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. Is a True Autosomal recessive distal hereditary motor neuropathy (disorder) Inferred relationship Some
A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (around 10 years after onset). Is a True Autosomal recessive distal hereditary motor neuropathy (disorder) Inferred relationship Some
Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. Is a True Autosomal recessive distal hereditary motor neuropathy (disorder) Inferred relationship Some
Spinal muscular atrophy with respiratory distress type 1 Is a True Autosomal recessive distal hereditary motor neuropathy (disorder) Inferred relationship Some

This concept is not in any reference sets

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