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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4643781018 | PMP2-related Charcot-Marie-Tooth disease type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643782013 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643783015 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643786011 | PMP2-related Charcot-Marie-Tooth neuropathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643787019 | PMP2-related hereditary motor and sensory neuropathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399448010 | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399449019 | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643781018 | PMP2-related Charcot-Marie-Tooth disease type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643782013 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643783015 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643786011 | PMP2-related Charcot-Marie-Tooth neuropathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643787019 | PMP2-related hereditary motor and sensory neuropathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643788012 | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643789016 | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399448010 | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399449019 | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3434131001000118 | PMP2-abhängige Charcot-Marie-Tooth-Krankheit Typ 1 | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6437251000241113 | maladie CMT1 (Charcot-Marie-Tooth de type 1) associée à PMP2 (peripheral myelin protein 2) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6437261000241111 | maladie de Charcot-Marie-Tooth de type 1 associée à la protéine P2 de la myéline périphérique | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6437271000241115 | neuropathie sensitivomotrice héréditaire de type 1 associée à la protéine P2 de la myéline périphérique | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6437251000241113 | maladie CMT1 (Charcot-Marie-Tooth de type 1) associée à PMP2 (peripheral myelin protein 2) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6437261000241111 | maladie de Charcot-Marie-Tooth de type 1 associée à la protéine P2 de la myéline périphérique | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 6437271000241115 | neuropathie sensitivomotrice héréditaire de type 1 associée à la protéine P2 de la myéline périphérique | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3434131001000118 | PMP2-abhängige Charcot-Marie-Tooth-Krankheit Typ 1 | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) | Is a | Charcot-Marie-Tooth disease, type I (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)