raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:95718

Congenital thyroid malformation without hypothyroidism

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enCongenital thyroid malformation without hypothyroidism
frMalformation congénitale de la thyroïde sans hypothyroïdie
deSchilddrüsenfehlbildung ohne Hypothyreose, kongenital
esMalformación congénita de la tiroides sin hipotiroidismo
itMalformazione tiroidea congenita senza ipotiroidismo
nlCongenitale schildkliermalformatie zonder hypothyreoïdie
ptMalformação congénita da tiroide sem hipotiroidismo
plWrodzona malformacja tarczycy bez niedoczynności
csVrozené malformace štítné žlázy bez hypotyreózy
ukВроджена вада щитоподібної залози без гіпотиреозу
zh先天性甲状腺畸形不伴甲状腺功能减退
trHipotiroidi olmayan doğumsal tiroid malformasyonu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681582Evalidated

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):

Children (3):

Codes that Orphanet moved or referred to this one:

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card