FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

1156835005: Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4576294017 Autosomal dominant Charcot-Marie-Tooth disease type 2 en Synonym Active Only initial character case insensitive SNOMED CT core module
4576295016 Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

27 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant Charcot-Marie-Tooth disease type 2 Finding site Nerve structure true Inferred relationship Existential restriction modifier 1
Autosomal dominant Charcot-Marie-Tooth disease type 2 Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier 2
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 Associated morphology Atrophy true Inferred relationship Existential restriction modifier 1
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a Charcot-Marie-Tooth disease, type II true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2U Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2Q Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2F Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2G Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2K Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2L Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2M Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2N Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2B Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2C Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2D Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2E Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2I Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2J Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2O Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2W Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2Z Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2Y Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2V Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2DD Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start