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Spastic Paraplegia, Hereditary (CUI C0037773) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0037773

NCI Thesaurus Code: C140267  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: Spastic paraplegia that is transmitted from parent to child.

GARD Definition: Hereditary spastic paraplegia is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs leading to difficulty walking.  As degeneration continues, symptoms worsen.   - this information is from GARD/ORDR/NCATS.

MSH Definition: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)

Synonyms & Abbreviations: (see Synonym Details)
Charcot-Marie-Tooth disease - pyramidal features
CMT with pyramidal features
Familial spastic paraparesis
Familial spastic paraplegia syndrome
Familial spastic paraplegia
FSP
Hered spastic paraplegia
Hereditary motor and sensory neuropathy 5
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type V
Hereditary Motor And Sensory Neuropathy V
Hereditary motor and sensory neuropathy, type V
Hereditary Motor Sensory Neuropathy with Pyramidal Signs
Hereditary Motor-Sensory Neuropathy with Pyramidal Signs
Hereditary sensory-motor neuropathy, type V (disorder)
Hereditary sensory-motor neuropathy, type V
Hereditary spastic paraparesis
Hereditary spastic paraplegia (disorder)
Hereditary Spastic Paraplegias
Hereditary spastic paraplegia
HMSN 5
HMSN Type V
HMSN V (Hereditary Motor and Sensory Neuropathy Type V)
HMSN V
HMSN5
HSMN V
HSP - Hereditary spastic paraplegia
HSP
Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia
Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia
PARALYSIS, SPASTIC SPINAL FAMILIAL
Paraplegia, Hereditary Spastic
PARAPLEGIA, SPASMODIC INFANTILE
PARAPLEGIA, SPASTIC CONGENITAL
PARAPLEGIA, SPASTIC HEREDITARY
Paraplegia, Spastic, Hereditary
Paraplegias, Hereditary Spastic
Peroneal muscular atrophy with pyramidal features, autosomal dominant
Spastic congenital paraplegia
Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy
Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V
Spastic Paraplegia, Hereditary [Disease/Finding]
Spastic Paraplegia, Hereditary
Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy
Spastic Paraplegias, Hereditary
SPG
Strumpell disease
Strumpell's disease
Strumpell-Lorrain disease
Type V Hereditary Motor and Sensory Neuropathy
Type V, HMSN

External Source Codes: 
NCI Thesaurus Code C140267 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN coord with GENES, DOMINANT or GENES, RECESSIVE if discussed MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F141. SNOMEDCT_US
CTV3ID X00AB SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 19126 GARD
DISEASE_IDENTIFIER_ID 19127 GARD
DISEASE_IDENTIFIER_ID 19128 GARD
DISEASE_IDENTIFIER_ID 19713 GARD
DISEASE_IDENTIFIER_ID 19714 GARD
DISEASE_IDENTIFIER_ID 19715 GARD
DISEASE_IDENTIFIER_ID 19716 GARD
DISEASE_IDENTIFIER_ID 33498 GARD
DISEASE_IDENTIFIER_ID 33602 GARD
DISEASE_IDENTIFIER_ID 33603 GARD
DISEASE_IDENTIFIER_ID 33604 GARD
DISEASE_IDENTIFIER_ID 33605 GARD
DISEASE_IDENTIFIER_ID 33606 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,4,q,3,4,.,3,-,q,3,5,.,2, OMIM
GENESYMBOL HMSN5 OMIM
HAS_GARD_PAGE true GARD
HN 1991(1989) MSH
IAN DEFAULT ICD10
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Comment Added GARD
MDA 19880607 MSH
MESH_DEFINITION A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) NDFRT
MESH_DUI D015419 NDFRT
MESH_NAME Spastic Paraplegia, Hereditary NDFRT
MESH_UI M0023769 NDFRT
MIMTYPE 5 OMIM
MIMTYPEMEANING Mendelian phenotype or locus, molecular basis unknown. OMIM
MIMTYPEVALUE perc OMIM
MMR 20130709 MSH
MN C10.500.300.820 MSH
MN C10.574.500.495.820 MSH
MN C10.668.829.800.300.820 MSH
MN C16.131.666.300.820 MSH
MN C16.320.400.375.820 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003231 NDFRT
ORDER_NO 05802 ICD10CM
PM 1991; see NEUROPATHIES, HEREDITARY MOTOR AND SENSORY 1989-1990 MSH
PRIMARY_PATH 10019903$10029300$10029299$10010331$Hereditary spastic paraplegia$Neurological disorders congenital NEC$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6637/hereditary-spastic-paraplegia/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9208/hereditary-motor-and-sensory-neuropathy-type-5/resources/1 GARD
RXAUI 3168883 RXNORM
RXAUI 3168885 RXNORM
RXAUI 3172448 RXNORM
RXAUI 3172484 RXNORM
RXAUI 3174654 RXNORM
RXAUI 3218069 RXNORM
RXAUI 3239516 RXNORM
RXAUI 3239517 RXNORM
RXAUI 3239523 RXNORM
RXAUI 3251879 RXNORM
RXAUI 3605870 RXNORM
RXAUI 4223100 RXNORM
RXAUI 5038911 RXNORM
RXAUI 5039424 RXNORM
RXAUI 5039450 RXNORM
RXCUI 1024490 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 39912006 NDFRT
SNOMED_CID 76043009 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G11.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G60.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G11.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G60.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G11.4 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G60.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G11.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G60.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F141. SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X00AB SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T045534 MSH
TERMUI T045535 MSH
TERMUI T045536 MSH
TERMUI T045537 MSH
TERMUI T371539 MSH
TERMUI T371540 MSH
TERMUI T371541 MSH
TERMUI T371545 MSH
TERMUI T371546 MSH
TERMUI T782701 MSH
TERMUI T782702 MSH
TERMUI T811901 MSH
TERMUI T825140 MSH
TERMUI T825141 MSH
TH NLM (1989) MSH
TH NLM (2000) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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