Non-syndromic hemimelia
Synonyms: Non-syndromic longitudinal meromelia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic hemimelia | Non-syndromic longitudinal meromelia |
| fr | Hémimélie non syndromique | Méromélie longitudinale non syndromique |
| de | Hemimelie, nicht-syndromale | Meromelie, longitudinale, nicht-syndromale |
| es | Hemimelia no sindrómica | Meromelia longitudinal no sindrómica |
| it | Emimelia non sindromica | Meromelia longitudinale non sindromica |
| nl | Niet-syndromale hemimelie | Niet-syndromale longitudinale meromelie |
| pt | Hemimelia não-sindrómica | Meromelia longitudinal não-sindrómica |
| pl | Hemimelia | Meromelia podłużna · Niesyndromiczna hemimelia |
| cs | Hemimélie | Longitudinální meromélie |
| uk | Несиндромальна гемімелія | Несиндромна поздовжня меромелія |
| zh | 半肢畸形 | 纵向残肢 |
| tr | Hemimeli | Boyuna meromeli |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016240 | E | validated | |
| MONDO | 16240 | E | validated | |
| UMLS | C5925000 | E | validated | |
| MedDRA | 10019464 | 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):
Parents in the classifications (1):
- ORPHA:498457Non-syndromic longitudinal limb defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.15 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2130
- This record as JSON: /data/d/2130.json