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1156835005: Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder)

Status: current, 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
4576294017 Autosomal dominant Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576295016 Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576294017 Autosomal dominant Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576295016 Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3452551001000110 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5817561000241111 maladie de Charcot-Marie-Tooth autosomique dominante de type 2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5817561000241111 maladie de Charcot-Marie-Tooth autosomique dominante de type 2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452551001000110 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

27 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant Charcot-Marie-Tooth disease type 2 Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant Charcot-Marie-Tooth disease type 2 Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2 Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a Charcot-Marie-Tooth disease, type II (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare form of axonal peripheral sensorimotor neuropathy characterised by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2O Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2W Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2Z Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2DD Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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