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Esophageal Achalasia (CUI C0014848) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0014848

NCI Thesaurus Code: C84699  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.

HPO Definition: A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. [HPO:probinson]

SNOMEDCT_US Definition: Characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise etiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor.

SNOMEDCT_US Definition: Characterised by loss of oesophageal peristalsis and insufficient lower oesophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise aetiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant aetiologic factor.

CSP Definition: failure of normal relaxation of the lower esophageal sphincter associated with uncoordinated contractions of the thoracic esophagus, resulting in functional obstruction and difficulty swallowing.

MSH Definition: A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus).

Synonyms & Abbreviations: (see Synonym Details)
ACHALASIA CARDIAE
Achalasia cardia
ACHALASIA ESOPHAGEAL
Achalasia oesophageal
Achalasia of cardia
Achalasia of esophagus (disorder)
Achalasia of esophagus
Achalasia of oesophagus
Achalasia of the esophagus
Achalasia, Esophageal
Achalasias, Esophageal
Achalasia
Cardiospasms
cardiospasm
Esophageal Achalasia [Disease/Finding]
Esophageal Achalasias
esophageal achalasia
Esophagus achalasia of
Idiopathic achalasia of esophagus (disorder)
Idiopathic achalasia of esophagus
Idiopathic achalasia of oesophagus
Idiopathic achalasia
Lack of reflex relaxation of lower esophageal sphincter
Lack of reflex relaxation of lower oesophageal sphincter
Oesophageal achalasia
Oesophagus achalasia of
Primary achalasia

External Source Codes: 
NCI Thesaurus Code C84699 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN CARDIOSPASM refers to spasm of the CARDIA, not the heart; not for esophageal spasm ( = ESOPHAGEAL SPASM, DIFFUSE) MSH
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 J100. SNOMEDCT_US
CTV3ID XUt3R 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
DID 1248-5473 CSP
DISEASE_IDENTIFIER_ID 16937 GARD
DISEASE_IDENTIFIER_ID 34493 GARD
DX 19850101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20160731 SNOMEDCT_US
EXCLUDES1 congenital cardiospasm (Q39.5) ICD10CM
HAS_GARD_PAGE true GARD
HN 1985; for ACHALASIA OF ESOPHAGUS use CARDIOSPASM 1974-1984; for ACHALASIA use CARDIOSPASM 1963-1973; CARDIOSPASM was heading 1963-1984 MSH
HPO_COMMENT Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. HPO
IAN DEFAULT ICD10
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Achalasia NOS ICD10
INCLUSION_TERM Cardiospasm ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus). NDFRT
MESH_DUI D004931 NDFRT
MESH_NAME Esophageal Achalasia NDFRT
MESH_UI M0007740 NDFRT
MMR 20090706 MSH
MN C06.405.117.119.500.432 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001155 NDFRT
ORDER_NO 13053 ICD10CM
PM 1985; for ACHALASIA OF ESOPHAGUS see CARDIOSPASM 1974-1984; for ACHALASIA see CARDIOSPASM 1963-1973; CARDIOSPASM was heading 1963-1984 MSH
PRIMARY_PATH 10007645$10018006$10017977$10017947$Cardiospasm$Gastrointestinal spastic and hypermotility disorders$Gastrointestinal motility and defaecation conditions$Gastrointestinal disorders MDR
PRIMARY_PATH 10030136$10017950$10017977$10017947$Oesophageal achalasia$Gastrointestinal dyskinetic disorders$Gastrointestinal motility and defaecation conditions$Gastrointestinal disorders MDR
PRIMARY_SOC 10017947 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/5999/cardiospasm/resources/1 GARD
RXAUI 3105004 RXNORM
RXAUI 3130553 RXNORM
RXAUI 3155440 RXNORM
RXAUI 3155441 RXNORM
RXCUI 1023001 RXNORM
SMQ_TERM_ADDVERSION 11.1 MDR
SMQ_TERM_ADDVERSION 15.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 11.1 MDR
SMQ_TERM_LMVERSION 16.1 MDR
SMQ_TERM_SCOPE 1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 235630008 NDFRT
SNOMED_CID 45564002 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS K22.0 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~K22.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS K22.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ACHALASIA MICROCEPHALY SYNDROME CHOOSE Q02 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF CONGENITAL ACHALASIA OF ESOPHAGUS CHOOSE Q39.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF DEAFNESS, VITILIGO, ACHALASIA SYNDROME CHOOSE H90.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF DEAFNESS, VITILIGO, ACHALASIA SYNDROME CHOOSE L80 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF DEAFNESS, VITILIGO, ACHALASIA SYNDROME CHOOSE Q39.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF GLUCOCORTICOID DEFICIENCY WITH ACHALASIA CHOOSE E27.49 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF GLUCOCORTICOID DEFICIENCY WITH ACHALASIA CHOOSE K22.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF MOYAMOYA DISEASE WITH EARLY ONSET ACHALASIA CHOOSE I67.5 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF MOYAMOYA DISEASE WITH EARLY ONSET ACHALASIA CHOOSE K22.0 | 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~MAPGROUP~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 45414006 | Glucocorticoid deficiency with achalasia | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 700283004 | Congenital achalasia of esophagus | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 718551002 | Moyamoya disease with early onset achalasia | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 718573009 | Achalasia microcephaly syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 733069009 | Deafness, vitiligo, achalasia syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E27.49 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~H90.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~I67.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~K22.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~L80 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q02 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q39.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~J100. SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUt3R 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 T015072 MSH
TERMUI T015073 MSH
TERMUI T015074 MSH
TERMUI T750856 MSH
TH NLM (1966) MSH
TH NLM (2010) MSH
TH ORD (2010) MSH
TH UNK (19XX) 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=C0014848

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