Charcot-Marie-Tooth disease type 2B5 771307003

SNOMED CT code

SNOMED code

771307003

name

Charcot-Marie-Tooth disease type 2B5

status

active

date introduced

2019-01-31

fully specified name(s)

Charcot-Marie-Tooth disease type 2B5 (disorder)

synonyms

Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
Autosomal recessive Charcot-Marie-Tooth disease type 2B5
Charcot-Marie-Tooth disease type 2B5

attributes - group2

Clinical course

Progressive 255314001

attributes - group1

Finding site

Nerve structure 3057000

Associated morphology

Atrophy 13331008

Occurrence

Infancy 3658006

attributes - group3

Finding site

Peripheral nervous system structure 3058005

parents

Autosomal recessive Charcot-Marie-Tooth disease type 2 1156852009
Chronic nervous system disorder 128283000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Degenerative disorder 362975008
Charcot-Marie-Tooth disease, type II 398187000
Autosomal recessive Charcot-Marie-Tooth disease type 2 1156852009
Charcot-Marie-Tooth disease type 2B5 771307003

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chronic disease 27624003
Chronic nervous system disorder 128283000
Charcot-Marie-Tooth disease type 2B5 771307003

ancestors

sorted most to least specific

Autosomal recessive Charcot-Marie-Tooth disease type 2 1156852009
Chronic nervous system disorder 128283000
Charcot-Marie-Tooth disease, type II 398187000
Autosomal recessive hereditary disorder 85995004
Chronic disease 27624003
Degenerative disorder 362975008
Autosomal hereditary disorder 1899006
Neuropathy 386033004
Hereditary motor and sensory neuropathy 398100001
Hereditary peripheral neuropathy 65017003
Hereditary disorder of nervous system 363235000
Disorder of the peripheral nervous system 42658009
Disorder of nervous system 118940003
Hereditary disorder by system 363137000
Disorder of body system 362965005
Hereditary disease 32895009
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts. Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:

CPT® to SNOMED Crosswalks

Thank you for choosing Find-A-Code, please Sign In to remove ads.

MY NEWSLETTERS

FEES

FACILITY

RISK ADJUSTMENT

SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Degenerative disorder 362975008

Charcot-Marie-Tooth disease, type II 398187000

Autosomal recessive Charcot-Marie-Tooth disease type 2 1156852009

Charcot-Marie-Tooth disease type 2B5 771307003

SNOMED CT code