FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

715795005: Charcot-Marie-Tooth disease type 4 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303739014 Autosomal recessive demyelinating Charcot-Marie-Tooth en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303741010 Charcot-Marie-Tooth disease type 4 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303742015 Charcot-Marie-Tooth disease type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303740011 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303739014 Autosomal recessive demyelinating Charcot-Marie-Tooth en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303741010 Charcot-Marie-Tooth disease type 4 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303742015 Charcot-Marie-Tooth disease type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303740011 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
979741000172119 AR-CMT1 - autosomal recessive Charcot-Marie-Tooth disease type 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989971000172117 maladie de Charcot-Marie-Tooth type 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
979741000172119 AR-CMT1 - autosomal recessive Charcot-Marie-Tooth disease type 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989971000172117 maladie de Charcot-Marie-Tooth type 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Charcot-Marie-Tooth disease type 4 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4 Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4 Finding site Peripheral nervous system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4 Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Charcot-Marie-Tooth disease type 4 Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterised by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4D Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4G (disorder) Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4B2 (disorder) Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4F (disorder) Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated. Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4B1 (disorder) Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterised by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced. Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4E (disorder) Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4B3 (disorder) Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)
SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) Is a True Charcot-Marie-Tooth disease type 4 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start