ORPHA:93436
Acromelic dysplasia
- Type
- Clinical group
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acromelic dysplasia | |
| fr | Dysplasie acromélique | |
| de | Dysplasie, akromele | |
| es | Displasia acromélica | |
| it | Displasia acromelica | |
| nl | Acromelische dysplasie | |
| pt | Displasia acromélica | |
| pl | Dysplazja akromeliczna | |
| cs | Akromelické dysplázie | |
| uk | Акромелічна дисплазія | |
| zh | 肢端发育不良 | |
| tr | Akromelik displazi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.8 | E | specific | validated |
| MONDO | 0019695 | E | validated | |
| UMLS | C4736195 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (16):
- ORPHA:63446Acrocapitofemoral dysplasia
- ORPHA:950Acrodysostosis
- ORPHA:969Acromicric dysplasia
- ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia
- ORPHA:85168Craniofacial conodysplasia
- ORPHA:2623Geleophysic dysplasia
- ORPHA:3041Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:623695MIR140-related spondyloepiphyseal dysplasia
- ORPHA:2588Myhre syndrome
- ORPHA:79443Pseudohypoparathyroidism type 1A
- ORPHA:79444Pseudohypoparathyroidism type 1C
- ORPHA:79445Pseudopseudohypoparathyroidism
- ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome
- ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome
- ORPHA:324764Trichorhinophalangeal syndrome
- ORPHA:3449Weill-Marchesani syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93436
- This record as JSON: /data/d/93436.json