ORPHA:138047

Pierre Robin syndrome associated with a chromosomal anomaly

Synonyms: Pierre Robin sequence associated with a chromosomal anomaly

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	Pierre Robin syndrome associated with a chromosomal anomaly	Pierre Robin sequence associated with a chromosomal anomaly
fr	Syndrome de Pierre Robin associée à une anomalie chromosomique	Séquence de Pierre Robin associée à une anomalie chromosomique
de	Pierre-Robin-Sequenz mit assoziierter Chromosomenstörung	Pierre-Robin-Syndrom - Chromosomenanomalie
es	Síndrome de Pierre Robin asociado con anomalía cromosómica	Secuencia de Pierre Robin asociada con anomalía cromosómica
it	Sindrome di Pierre Robin associata a una anomalia cromosomica	Sequenza di Pierre Robin associata a una anomalia cromosomica
nl	Syndroom van Pierre Robin geassocieerd met chromosoomafwijking	Pierre Robin sequentie geassocieerd met chromosoomafwijking
pt	Sequência de Pierre Robin associada a anomalia cromossómica
pl	Zespół Pierre'a Robina związany z anomalią chromosomową	Sekwencja Pierre'a Robina związana z anomalią chromosomową
cs	Pierre Robinův syndrom asociovaný s chromozomální anomálií	Pierre Robinova sekvence asociovaná s chromozomální anomálií
uk	Синдром Пєра Робена, повязаний з хромосомною аномалією	Послідовність Пєра Робіна повязана з хромосомною аномалією
zh	染色体异常相关Pierre-Robin综合征	Pierre-Robin序列征相关染色体异常
tr	Kromozom anomalisi ilişkili Pierre Robin sendromu	Bir kromozomal anomaliyle ilişkili Pierre Robin dizisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5679600	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:363294Genetic syndromic Pierre Robin syndrome
rare genetic diseases
ORPHA:138044Rare disease with Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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/138047
This record as JSON: /data/d/138047.json