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1156837002: Autosomal dominant 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
4576298019 Autosomal dominant distal hereditary motor neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4576299010 Autosomal dominant distal hereditary motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5797731000241113 neuropathie motrice distale héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (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
Autosomal dominant distal hereditary motor neuropathy (disorder) Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Autosomal dominant distal hereditary motor neuropathy (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Autosomal dominant distal hereditary motor neuropathy (disorder) Finding site Nerve structure true Inferred relationship Some 1
Autosomal dominant distal hereditary motor neuropathy (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 2
Autosomal dominant distal hereditary motor neuropathy (disorder) Is a Peripheral motor neuropathy true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A complex hereditary spastic paraplegia characterised by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy is typical. Is a True Autosomal dominant distal hereditary motor neuropathy (disorder) Inferred relationship Some
Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. Is a True Autosomal dominant distal hereditary motor neuropathy (disorder) Inferred relationship Some
A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. Is a True Autosomal dominant distal hereditary motor neuropathy (disorder) Inferred relationship Some
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. Is a True Autosomal dominant distal hereditary motor neuropathy (disorder) Inferred relationship Some
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. Is a True Autosomal dominant distal hereditary motor neuropathy (disorder) Inferred relationship Some
A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. Is a True Autosomal dominant distal hereditary motor neuropathy (disorder) Inferred relationship Some
A rare autosomal dominant distal hereditary motor neuropathy disease characterised by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseous muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life. Is a True Autosomal dominant distal hereditary motor neuropathy (disorder) Inferred relationship Some
A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved. Is a True Autosomal dominant distal hereditary motor neuropathy (disorder) Inferred relationship Some

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