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398187000: Charcot-Marie-Tooth disease, type II (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
1766106011 Charcot-Marie-Tooth disease, type II (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
1777741013 Charcot-Marie-Tooth disease, type II en Synonym Active Entire term case sensitive SNOMED CT core module
1786162017 Inherited neuronal peroneal muscular atrophy en Synonym Active Entire term case insensitive SNOMED CT core module
1786163010 Hereditary motor and sensory neuropathy type II en Synonym Active Only initial character case insensitive SNOMED CT core module
1786164016 Peroneal muscular atrophy of neuronal type en Synonym Active Entire term case insensitive SNOMED CT core module
2966551016 Charcot Marie Tooth disease, type 2 en Synonym Active Entire term case sensitive SNOMED CT core module

40 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Charcot-Marie-Tooth disease, type II Is a Charcot-Marie-Tooth disease false Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, type II Associated morphology Neuropathic atrophy false Inferred relationship Existential restriction modifier 2
Charcot-Marie-Tooth disease, type II Associated morphology Atrophy false Inferred relationship Existential restriction modifier 1
Charcot-Marie-Tooth disease, type II Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier 2
Charcot-Marie-Tooth disease, type II Finding site Nerve structure false Inferred relationship Existential restriction modifier 1
Charcot-Marie-Tooth disease, type II Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Charcot-Marie-Tooth disease, type II Is a Neuropathy true Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, type II Is a Neurological lesion false Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, type II Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier 2
Charcot-Marie-Tooth disease, type II Associated morphology Atrophy true Inferred relationship Existential restriction modifier 1
Charcot-Marie-Tooth disease, type II Finding site Nerve structure true Inferred relationship Existential restriction modifier 1
Charcot-Marie-Tooth disease, type II Associated morphology Neuropathic atrophy false Inferred relationship Existential restriction modifier 2
Charcot-Marie-Tooth disease, type II Is a Hereditary motor and sensory neuropathy true Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, type II Is a Degenerative disorder true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant Charcot-Marie-Tooth disease type 2B Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2C Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2D Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2E Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2I Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2J Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2F Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2G Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2K Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2L Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2M Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2N Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2B2 Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2H Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2B1 Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2U Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2B5 Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2Q Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2R Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2O Is a False Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2P Is a True Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a True Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a True Charcot-Marie-Tooth disease, type II Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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