raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:142

Anaplastic thyroid carcinoma

Type
Disease
Group
Disorder
Inheritance
Not applicable
Age of onset
Adult, Elderly
Status
active

A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAnaplastic thyroid carcinoma
frCancer anaplasique de la thyroïde
deSchilddrüsenkarzinom, anaplastisches
esCarcinoma anaplásico de tiroides
itCarcinoma anaplasico della tiroide
nlAnaplastisch schildkliercarcinoom
ptCancro anaplásico da tiroide
plRak anaplastyczny tarczycy
csAnaplastický karcinom štítné žlázy
ukАнапластична карцинома щитовидної залози
zh甲状腺未分化癌
trAnaplastik tiroid karsinomu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10C73NTBTattributedvalidated
ICD-112D10.3Especificvalidated
MONDO0006468Evalidated
MONDO6468Evalidated
MeSHD065646Evalidated
UMLSC0238461Evalidated
GARD664Evalidated
MedDRA10002240Evalidated

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

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Annual incidence1-9 / 1 000 0000.17 / 100 000EuropeValue and classValidatedRARECARE surveillance of rare cancers in Europe 2011[OTHER]
Point prevalence1-9 / 1 000 0000.1 / 100 000EuropeValue and classValidatedEuropean Medicines Agency 2004[OTHER]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

23 annotations · validated 2016-06-13
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0011779Anaplastic thyroid carcinoma
Very frequent (99-80%)
HP:0000475Broad neck
HP:0000853Goiter
HP:0001609Hoarse voice
HP:0005994Nodular goiter
Frequent (79-30%)
HP:0002015Dysphagia
HP:0004894Laryngotracheal stenosis
HP:0002716Lymphadenopathy
HP:0100526Neoplasm of the lung
HP:0012531Pain
HP:0002098Respiratory distress
HP:0002781Upper airway obstruction
HP:0001605Vocal cord paralysis
Occasional (29-5%)
HP:0011805Abnormal skeletal muscle morphology
HP:0012735Cough
HP:0001618Dysphonia
HP:0002094Dyspnea
HP:0002105Hemoptysis
HP:0010622Neoplasm of the skeletal system
HP:0010307Stridor
HP:0001824Weight loss
Very rare (<4-1%)
HP:0100836Malignant neoplasm of the central nervous system
HP:0002575Tracheoesophageal fistula

Run the differential on the 5 obligate / very frequent terms

Annotation source: 11061600[PMID]_22869844[PMID]_11742333[PMID]_3967175[PMID]_9737368[PMID]

7

Sources for this card