National Drug File - Reference Terminology - Hereditary Sensory and Motor Neuropathy [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Id	http://purl.bioontology.org/ontology/NDFRT/N0000003229 http://purl.bioontology.org/ontology/NDFRT/N0000003229
Preferred Name	Hereditary Sensory and Motor Neuropathy [Disease/Finding]
Synonyms	Hereditary Motor and Sensory Neuropathy Hereditary Motor and Sensory Neuropathies HMSN Hereditary Sensory and Motor Neuropathy Herditary Sensory and Motor Neuropathy Neuropathies, Hereditary Motor and Sensory
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Hereditary Motor and Sensory Neuropathy Hereditary Motor and Sensory Neuropathies HMSN Hereditary Sensory and Motor Neuropathy Herditary Sensory and Motor Neuropathy Neuropathies, Hereditary Motor and Sensory See more See less
prefLabel	Hereditary Sensory and Motor Neuropathy [Disease/Finding]
notation	N0000003229
MESH DEFINITION	A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
MESH UI	M0023767
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000004091
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
MeSH name	Hereditary Sensory and Motor Neuropathy
NDFRT kind	DISEASE_KIND
type	http://www.w3.org/2002/07/owl#Class
SNOMED CID	398100001
tui	T047
NUI	N0000003229
cui	C0027888
MESH DUI	D015417

Delete	Subject	Author	Type	Created
No notes to display