Primary lymphedema
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary lymphedema | |
| fr | Lymphoedème primaire | |
| de | Primäres Lymphödem | |
| es | Linfedema primario | |
| it | Linfedema primitivo | Malformazione linfatica tronculare |
| nl | Primair lymfoedeem | |
| pt | Linfedema primário | |
| pl | Pierwotny obrzęk limfatyczny | Troncular lymphatic malformation |
| cs | Primární lymfedém | Tronkulární lymfatická malformace |
| uk | Первинна лімфедема | |
| zh | 原发性淋巴水肿 | |
| tr | Primer lenfödem |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | BD93.0 | E | specific | validated |
| MONDO | 0019175 | E | validated | |
| MONDO | 19175 | E | validated | |
| UMLS | C0238261 | 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 (4):
- ORPHA:211240Genetic vascular anomaly
rare genetic diseases - ORPHA:68346Rare genetic skin disease
rare genetic diseases - ORPHA:89826Rare skin disease
rare skin diseases - ORPHA:211255Slow-flow malformation, lymphatic type
rare developmental anomalies during embryogenesis; rare circulatory system diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:79383OBSOLETE: Lymphedema referred to · inactive
- ORPHA:86917OBSOLETE: Lymphedema-cleft palate syndrome referred to · inactive
- ORPHA:459530OBSOLETE: Genetic primary lymphedema referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 16.7 / 100 000 | Europe | Value and class | Validated | [EXPERT]_24212289[PMID] |
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/77240
- This record as JSON: /data/d/77240.json