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

773330000: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (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
3723200019 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723202010 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5244187019 RI-CMT (recessive intermediate Charcot-Marie-Tooth) type B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723203017 An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterised by a CMT neuropathy associated with developmental delay, self-abusive behaviour, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723204011 An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723200019 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723201015 RI-CMT type B - autosomal recessive intermediate Charcot-Marie-Tooth disease type B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723202010 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5244187019 RI-CMT (recessive intermediate Charcot-Marie-Tooth) type B en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723203017 An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterised by a CMT neuropathy associated with developmental delay, self-abusive behaviour, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723204011 An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3426601001000112 Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ B de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
869571000172116 RI-CMT type B - autosomal recessive intermediate Charcot-Marie-Tooth disease type B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879691000172113 maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
869571000172116 RI-CMT type B - autosomal recessive intermediate Charcot-Marie-Tooth disease type B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879691000172113 maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426601001000112 Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ B 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 recessive intermediate Charcot-Marie-Tooth disease type B (disorder) Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (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

This concept is not in any reference sets

Back to Start