FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1172585006: Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634476017 Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4634477014 MME-related autosomal dominant Charcot Marie Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634478016 Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4634479012 MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634480010 A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) est un(e) (attribut) Autosomal dominant Charcot-Marie-Tooth disease type 2 true Inferred relationship Some
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) est un(e) (attribut) trouble neurologique chronique true Inferred relationship Some
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) est un(e) (attribut) atteinte d'un nerf périphérique true Inferred relationship Some
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 2
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) localisation d'une constatation (attribut) nerf périphérique (structure corporelle) true Inferred relationship Some 3
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) localisation d'une constatation (attribut) structure d'un nerf true Inferred relationship Some 1
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) morphologie associée (attribut) atrophie (anomalie morphologique) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start