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398187000: Charcot-Marie-Tooth disease, type II (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1766106011 Charcot-Marie-Tooth disease, type II (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1777741013 Charcot-Marie-Tooth disease, type II en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786162017 Inherited neuronal peroneal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786163010 Hereditary motor and sensory neuropathy type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786164016 Peroneal muscular atrophy of neuronal type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2966551016 Charcot Marie Tooth disease, type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1766106011 Charcot-Marie-Tooth disease, type II (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1777741013 Charcot-Marie-Tooth disease, type II en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786162017 Inherited neuronal peroneal muscular atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786162017 Inherited neuronal peroneal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786163010 Hereditary motor and sensory neuropathy type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786164016 Peroneal muscular atrophy of neuronal type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786164016 Peroneal muscular atrophy of neuronal type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2966551016 Charcot Marie Tooth disease, type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
318211000172115 maladie de Charcot-Marie-Tooth de type II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
318211000172115 maladie de Charcot-Marie-Tooth de type II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

40 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Charcot-Marie-Tooth disease, type II (disorder) Is a Charcot-Marie-Tooth disease false Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, type II (disorder) Associated morphology Neuropathic atrophy false Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease, type II (disorder) Associated morphology Atrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease, type II (disorder) Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease, type II (disorder) Finding site Nerve structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease, type II (disorder) Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease, type II (disorder) Is a Neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, type II (disorder) Is a Neurological lesion false Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, type II (disorder) Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease, type II (disorder) Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease, type II (disorder) Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease, type II (disorder) Associated morphology Neuropathic atrophy false Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease, type II (disorder) Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, type II (disorder) Is a Degenerative disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) 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 False Charcot-Marie-Tooth disease, type II (disorder) 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 False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) 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 False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) 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 False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2B2 Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2H Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2B1 (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2B5 (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2R (disorder) Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2O Is a False Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2P (disorder) Is a True Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a True Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a True Charcot-Marie-Tooth disease, type II (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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