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1156852009: Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4576330010 Autosomal recessive Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576331014 Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576330010 Autosomal recessive Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576331014 Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5768641000241114 maladie de Charcot-Marie-Tooth autosomique récessive de type 2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5768641000241114 maladie de Charcot-Marie-Tooth autosomique récessive de type 2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive Charcot-Marie-Tooth disease type 2 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive Charcot-Marie-Tooth disease type 2 Associated morphology Atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Charcot-Marie-Tooth disease, type II (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2B5 (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2R (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2B2 Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2H Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2B1 (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 2S Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)
DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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