ORPHA:93429

Multiple epiphyseal dysplasia and pseudoachondroplasia

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	Multiple epiphyseal dysplasia and pseudoachondroplasia
fr	Dysplasie multi-épiphysaire et pseudoachondroplasie
de	Dysplasie, epiphysäre multiple, mit Pseudoachondroplasie
es	Displasia epifisaria múltiple y pseudoacondroplasia
it	Displasia epifisaria multipla e pseudoacondroplasia
nl	Multipele epifysaire dysplasie en pseudoachondroplasie	Meervoudige epifysaire dysplasie en pseudoachondroplasie
pt	Displasia epifisiária múltipla e pseudoacondroplasia
pl	Dysplazja wielonasadowa i pseudoachondroplazja
cs	Mnohočetné epifyzární dysplázie a pseudoachondroplázie
uk	Множинна епіфізарна дисплазія та псевдоахондроплазія
zh	多发性骨骺发育不良伴假性软骨发育不全
tr	Çoklu epifizeal displazi ve psödoakondroplazi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-11	LD24.6	E	specific	validated
UMLS	C5681609	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:93419Rare bone disease

Parents in the classifications (1):

ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

Children (4):

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/93429
This record as JSON: /data/d/93429.json