skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Hallervorden-Spatz Syndrome (CUI C0018523) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0018523

NCI Thesaurus Code: C8967  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition, lewy body (LB)-like intraneuronal inclusions and neurofibrillary tangles.

MSH Definition: A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)

Synonyms & Abbreviations: (see Synonym Details)
Brain Iron Accumulation Type I Syndrome
Degeneration, Pigmentary Pallidal
Dystrophies, Juvenile-Onset Neuroaxonal
Dystrophy, Juvenile-Onset Neuroaxonal
Hallervorden Spatz Disease
HALLERVORDEN SPATZ DIS
Hallervorden Spatz Syndrome
Hallervorden-Spatz disease
Hallervorden-Spatz syndrome
Juvenile-Onset Neuroaxonal Dystrophies
Juvenile-Onset Neuroaxonal Dystrophy
NBIA 1
NBIA1
NBIA
Neuroaxonal Dystrophies, Juvenile-Onset
Neuroaxonal Dystrophy, Juvenile Onset
Neuroaxonal Dystrophy, Juvenile-Onset
Neurodegeneration With Brain Iron Accumulation 1
Neurodegeneration with brain iron accumulation type 1
Neurodegeneration with brain iron accumulation
Neurodegeneration, Pantothenate Kinase-Associated
Pallidal Atrophy, Pigmentary
Pantothenate Kinase Associated Neurodegeneration
Pantothenate Kinase-Associated Neurodegeneration [Disease/Finding]
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary Pallidal Atrophy
Pigmentary pallidal degeneration (disorder)
Pigmentary pallidal degeneration
PKAN Neuroaxonal Dystrophy, Juvenile Onset
PKAN Neuroaxonal Dystrophy, Juvenile-Onset
PKAN

External Source Codes: 
NCI Thesaurus Code C8967 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CN 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 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F1301 SNOMEDCT_US
DATE_CREATED 2013-01-02T00:07:00 GARD
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-02T00:07:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 18983 GARD
DISEASE_IDENTIFIER_ID 18984 GARD
DISEASE_IDENTIFIER_ID 18986 GARD
DISEASE_IDENTIFIER_ID 22837 GARD
DISEASE_IDENTIFIER_ID 30826 GARD
DISEASE_IDENTIFIER_ID 30827 GARD
DISEASE_IDENTIFIER_ID 30828 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,2,0,p,1,3,-,p,1,2,.,3, OMIM
GENESYMBOL HARP OMIM
GENESYMBOL NBIA1 OMIM
GENESYMBOL PANK2 OMIM
GENESYMBOL PKAN OMIM
HAS_GARD_PAGE true GARD
HN 2008 (1965) MSH
IAN DEFAULT ICD10
IDENTIFIER_ORDER 2 GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Pigmentary pallidal degeneration ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2013-07-02T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929) NDFRT
MESH_DUI D006211 NDFRT
MESH_NAME Pantothenate Kinase-Associated Neurodegeneration NDFRT
MESH_UI M0009761 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.228.140.079.800 MSH
MN C10.228.140.744.320 MSH
MN C10.228.662.575 MSH
MN C10.574.500.700 MSH
MN C16.320.400.650 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001402 NDFRT
ORDER_NO 05833 ICD10CM
PM 2008; see HALLERVORDEN-SPATZ SYNDROME 1991-2007, see BASAL GANGLIA DISEASES 1979-1990, see BRAIN DISEASES 1975-1978 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/11899/neurodegeneration-with-brain-iron-accumulation/resources/1 GARD
RXAUI 3170853 RXNORM
RXAUI 3220933 RXNORM
RXAUI 3220934 RXNORM
RXAUI 3287440 RXNORM
RXAUI 3288351 RXNORM
RXAUI 3288352 RXNORM
RXAUI 5039723 RXNORM
RXAUI 5039774 RXNORM
RXAUI 5931781 RXNORM
RXAUI 5931782 RXNORM
RXCUI 1023953 RXNORM
SNOMED_CID 2992000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G23.0 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~G23.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G23.0 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~G23.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F1301 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 T018848 MSH
TERMUI T018849 MSH
TERMUI T364139 MSH
TERMUI T364140 MSH
TERMUI T694229 MSH
TERMUI T811600 MSH
TERMUI T825110 MSH
TERMUI T842243 MSH
TERMUI T842244 MSH
TH GHR (2014) MSH
TH NLM (1965) MSH
TH NLM (1997) MSH
TH NLM (2000) MSH
TH NLM (2008) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0018523

Mainbox Bottom