ORPHA:232288

Syndrome with alpha-thalassemia as a major feature

Type: Category
Group: Group of disorders
Status: active

This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Syndrome with alpha-thalassemia as a major feature
fr	Syndrome avec alpha-thalassémie comme manifestation majeure
de	Syndrome mit Alpha-Thalassämie als Hauptmerkmal
es	Síndrome con alfa-talasemia como característica principal
it	Sindrome con prevalente alfa talassemia
nl	Syndroom met alfa-thalassemie als hoofdkenmerk
pt	Síndrome de alfa-talassemia como característica principal
pl	Choroby towarzyszące alfa-talasemii
cs	Nemoci související s alfa talasémií
uk	Синдром з альфа-таласемією як основною ознакою
zh	α-地中海贫血相关疾病
tr	Alfa-talasemi -ilişkili hastalıklar

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	16513	E		validated
UMLS	C5680928	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:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:275745Alpha-thalassemia and related disorders
rare genetic diseases; rare hematological diseases; rare transplant-related disorders

Children (3):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/232288
This record as JSON: /data/d/232288.json