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1156852009: Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4576330010 Autosomal recessive Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576331014 Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5768641000241114 maladie de Charcot-Marie-Tooth autosomique récessive de type 2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive Charcot-Marie-Tooth disease type 2 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Congenital disease false Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site Nerve structure true Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site Peripheral nervous system structure true Inferred relationship Some 2
Autosomal recessive Charcot-Marie-Tooth disease type 2 Associated morphology Atrophy true Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Charcot-Marie-Tooth disease, type II (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some

This concept is not in any reference sets

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