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770759001: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702487015 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3702488013 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404919011 A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404920017 A rare hereditary motor and sensory neuropathy disorder characterised by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702487015 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3702488013 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3702489017 A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404919011 A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404920017 A rare hereditary motor and sensory neuropathy disorder characterised by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420621001000119 Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ F de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944271000172117 maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante type F fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982191000172111 CMTDIF - Charcot-Marie-Tooth disease type F fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944271000172117 maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante type F fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982191000172111 CMTDIF - Charcot-Marie-Tooth disease type F fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420621001000119 Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ F de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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