ORPHA:263717

X chromosome number anomaly with female phenotype syndrome

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	X chromosome number anomaly with female phenotype syndrome
fr	Syndrome d'anomalie du nombre de chromosome x avec phénotype féminin
de	Chromosom X-Anomalie, numerische, weiblicher Phänotyp
es	Síndrome de anomalía numérica del cromosoma X con fenotipo femenino
it	Sindrome anomalia numerica del cromosoma X con fenotipo femminile
nl	Numerieke anomalie van X chromosoom met vrouwelijk fenotype-syndroom
pt	Anomalia no número de cromossomas X com fenótipo feminino
pl	Zespół aberracji liczbowej chromosomu X z fenotypem żeńskim
cs	Anomálie počtu chromozomů X se ženským fenotypem
uk	Аномалія кількості Х-хромосом з жіночим фенотипом
zh	X染色体数目异常伴女性表型
tr	Kadın fenotipi ile X kromozom sayısı anomalisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17000	E		validated
UMLS	C5680728	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:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:263714X chromosome number anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

Children (2):

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/263717
This record as JSON: /data/d/263717.json