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
Isaacs syndrome (CUI C0242287) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0242287

Semantic Type: Disease or Syndrome

GARD Definition: Isaac's syndrome is a neuromuscular disease caused by continuous signaling of the end regions of peripheral nerve fibers that activate muscle fibers (motor neurons). Age of onset is between ages 15 and 60, with most patients experiencing symptoms before age 40. There are hereditary and acquired forms of the disorder. The acquired form may develop in association with peripheral neuropathies or as an autoimmune condition.
- this information is from GARD/ORDR/NCATS.

MSH Definition: A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)

Synonyms & Abbreviations: (see Synonym Details)
ARAN-NM
Autosomal recessive axonal neuropathy with neuromyotonia (disorder)
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive neuromyotonia with axonal neuropathy
Continuous Muscle Activity Syndrome
Continuous muscle fiber activity syndrome
Continuous muscle fiber activity
Continuous muscle fibre activity
Continuous Myokymias
Continuous Myokymia
Gamstorp Wohlfart Syndrome
Gamstorp-Wohlfart Syndromes
Gamstorp-Wohlfart Syndrome
Isaac Syndrome
Isaac's syndrome
Isaac's-Merten's syndrome
Isaacs Mertens Syndrome
Isaacs Pseudomyotonia Syndrome
Isaacs syndrome (disorder)
Isaacs Syndrome [Disease/Finding]
Isaacs syndrome
Isaacs' Syndrome
Isaacs-Mertens Syndrome
Myokymia, Continuous
Myokymia, myotonia and muscle wasting
Myokymia, Myotonia, And Muscle Wasting
Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis
Myokymias, Continuous
Neuromyotonia (disorder)
NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
Neuromyotonia
NMAN
Pseudomyotonia Syndrome of Isaacs
Pseudomyotonia
Quantal squander syndrome
Quantal Squander
Syndrome of Continuous Muscle Activity
Syndromes, Gamstorp-Wohlfart
Syndromes, Isaacs-Mertens

External Source Codes:  (none)

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 XU4jZ SNOMEDCT_US
CTV3ID XULGh SNOMEDCT_US
CTV3ID XUrkh SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-13T00:02:00 GARD
DATE_CREATED 2015-01-20T00:03:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2015-01-12T00:03:00 GARD
DATE_LAST_MODIFIED 2015-01-13T00:02:00 GARD
DATE_LAST_MODIFIED 2015-01-20T00:03:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 28984 GARD
DISEASE_IDENTIFIER_ID 28985 GARD
DISEASE_IDENTIFIER_ID 28986 GARD
DISEASE_IDENTIFIER_ID 29665 GARD
DISEASE_IDENTIFIER_ID 4121 GARD
DISEASE_IDENTIFIER_ID 4122 GARD
DISEASE_IDENTIFIER_ID 4123 GARD
DISEASE_IDENTIFIER_ID 4124 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20150731 SNOMEDCT_US
GENELOCUS ,5,q,3,1,.,2, OMIM
GENESYMBOL HINT1 OMIM
GENESYMBOL NMAN OMIM
GENESYMBOL PRKCNH1 OMIM
HAS_GARD_PAGE true GARD
HN 2000; for ISAACS' SYNDROME use FASCICULATION 1995-1999 MSH
IDENTIFIER_SOURCE Med GARD
IDENTIFIER_SOURCE OMI GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Related Disease Added GARD
MDA 19991103 MSH
MESH_DEFINITION A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491) NDFRT
MESH_DUI D020386 NDFRT
MESH_NAME Isaacs Syndrome NDFRT
MESH_UI M0008237 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150622 MSH
MN C05.651.392 MSH
MN C10.668.829.425 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000004130 NDFRT
PM 2000; for ISAACS' SYNDROME see FASCICULATION 1995-1999 MSH
PRIMARY_PATH 10072359$10029318$10029317$10029205$Neuromyotonia$Neuromuscular disorders NEC$Neuromuscular disorders$Nervous system disorders MDR
PRIMARY_SOC 10029205 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
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/12353/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6793/isaacs-syndrome/resources/1 GARD
RXAUI 3135548 RXNORM
RXAUI 3164698 RXNORM
RXAUI 3183084 RXNORM
RXAUI 3183085 RXNORM
RXAUI 3183086 RXNORM
RXAUI 3183087 RXNORM
RXAUI 3200922 RXNORM
RXAUI 3206385 RXNORM
RXAUI 3225774 RXNORM
RXAUI 3225775 RXNORM
RXAUI 3227043 RXNORM
RXAUI 3242062 RXNORM
RXAUI 5039666 RXNORM
RXCUI 1024337 RXNORM
SMQ_TERM_ADDVERSION 15.0 MDR
SMQ_TERM_ADDVERSION 15.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 15.0 MDR
SMQ_TERM_LMVERSION 15.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 305719002 NDFRT
SNOMED_CID 80138003 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G60.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G71.1 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G71.1 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~G60.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G71.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G60.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G71.19 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA CHOOSE G60.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA CHOOSE G71.19 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 711406009 | Autosomal recessive axonal neuropathy with neuromyotonia | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G60.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G71.19 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU4jZ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XULGh SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUrkh 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 T015972 MSH
TERMUI T015973 MSH
TERMUI T358686 MSH
TERMUI T369951 MSH
TERMUI T369952 MSH
TERMUI T369953 MSH
TERMUI T369954 MSH
TERMUI T369955 MSH
TERMUI T369956 MSH
TERMUI T369957 MSH
TERMUI T369958 MSH
TERMUI T812143 MSH
TH NLM (1995) MSH
TH NLM (2000) MSH
TH OMIM (2013) 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=C0242287

Mainbox Bottom