ORPHA:100080

Neuroendocrine tumor of the colon

Synonyms: Colonic NET · NET of the colon · Neuroendocrine neoplasm of the colon

Type: Disease
Group: Disorder
Age of onset: Adult, Elderly
Status: active

A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Neuroendocrine tumor of the colon	Colonic NET · NET of the colon · Neuroendocrine neoplasm of the colon
fr	Tumeur neuroendocrine du côlon	Néoplasme neuroendocrine du côlon
de	Tumor, neuroendokriner, des Kolons	NET des Kolons · Neuroendokrine Neoplasie des Kolons
es	Tumor neuroendocrino de colon	Neoplasia neuroendocrina de colon · TNE de colon
it	Tumore neuroendocrino del colon
nl	Neuro-endocriene tumor van colon	NET van colon · Neuro-endocrien neoplasma van colon · Neuro-endocriene tumor van karteldarm
pt	Tumor endócrino do colon
pl	Guz neuroendokrynny jelita grubego	NET jelita grubego · Nowotwór neuroendokrynny jelita grubego
cs	Endokrinní nádor tlustého střeva	= en
uk	Нейроендокринна пухлина товстої кишки	НЕП товстої кишки · НЕП товстої кишки · Нейроендокринне новоутворення товстої кишки
zh	结肠神经内分泌肿瘤	结肠神经内分泌瘤
tr	Kolonun nöroendokrin tümörü	Kolonik NET · Kolonun NET'i · Kolonun nöroendokrin neoplazmı

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	C18.8	NTBT	attributed	validated
ICD-11	2B90.Y	NTBT	index	validated
MONDO	0002882	E		validated
UMLS	C1333097	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:250908Rare neoplastic disease

Parents in the classifications (2):

ORPHA:481508Gastroenteric neuroendocrine neoplasm
rare endocrine diseases; rare neoplastic diseases
ORPHA:423991Rare epithelial tumor of colon
rare gastroenterological diseases; rare neoplastic diseases; rare transplant-related disorders

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

22 annotations · validated 2017-11-08

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0100570	Carcinoid tumor
Frequent (79-30%)
HP:0002027	Abdominal pain
HP:0002039	Anorexia
HP:0030446	Atypical pulmonary carcinoid tumor
HP:0025085	Bloody diarrhea
HP:0002730	Chronic noninfectious lymphadenopathy
HP:0002240	Hepatomegaly
HP:0030144	Hypoactive bowel sounds
HP:0001824	Weight loss
Occasional (29-5%)
HP:0031566	Abnormal pulmonary valve cusp morphology
HP:0012701	Bowel urgency
HP:4000007	Bronchoconstriction
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0007380	Facial telangiectasia
HP:0002615	Hypotension
HP:0003144	Increased serum serotonin
HP:0030145	Lack of bowel sounds
HP:0002249	Melena
HP:0001962	Palpitations
HP:0004385	Protracted diarrhea
HP:0001708	Right ventricular failure
HP:0005180	Tricuspid regurgitation

Run the differential on the 1 obligate / very frequent terms

Annotation source: 20664474[PMID]_24763982[PMID]_24412088[PMID]_16913162[PMID]_22052063[PMID]_1568162[PMID]_15213627[PMID]_24468036[PMID]_27175651[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/100080
This record as JSON: /data/d/100080.json