ORPHA:364571

Dysostosis with limb and face anomalies as a major feature

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	Dysostosis with limb and face anomalies as a major feature
fr	Dysostose avec anomalies des membres et de la face comme manifestation majeure
de	Dysostose mit Extremitäten- und Gesichtsanomalien als Hauptmerkmal
es	Disostosis con anomalías de extremidades y cara como característica principal
it	Disostosi con anomalie facciali e degli arti come segno cardinale
nl	Dysostose met ledemaat- en aangezichtsanomalieën als hoofdkenmerk
pt	Disostose com anomalias nos membros e face como característica principal
pl	Dyzostoza z wadami kończyn i twarzy jako objawem głównym
cs	Dysostóza s anomáliemi končetin a obličeje jako hlavním znakem
uk	Дизостоз з аномаліями кінцівок та обличчя як основна ознака
zh	以肢体和面部异常异常为主要特征的骨发育不良
tr	Esas klinik özelliği ekstremite ve yüz anomalisi olan disostoz

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	18236	E		validated
UMLS	C5680978	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 (2):

ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases
ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases

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/364571
This record as JSON: /data/d/364571.json