Isolated lymphatic malformation
Synonyms: Common cystic lymphatic malformation
- Type
- Disease
- Group
- Disorder
- Status
- active
A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated lymphatic malformation | Common cystic lymphatic malformation |
| fr | Malformation lymphatique isolée | Malformation lymphatique kystique |
| de | Isolierte lymphatische Fehlbildung | Lymphatische Malformation, gewöhnliche |
| es | Malformación linfática aislada | Malformación linfática quística común |
| it | malformazione linfatica isolata | Malformazione linfatica cistica comune |
| nl | Geïsoleerde lymfatische malformatie | Geïsoleerde malformatie van lymfestelsel · Gewone cystische lymfatische malformatie |
| pt | Ataxia - apraxia oculomotora, tipo 4 | |
| pl | Powszechna torbielowata malformacja limfatyczna | = en |
| cs | Běžné cystické lymfatické malformace | = en |
| uk | Поширена кістозна лімфатична мальформація | |
| zh | 常见的囊性淋巴畸形 | |
| tr | Yaygın kistik lenfatik malformasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q28.8 | NTBT | attributed | validated |
| ICD-11 | LA90.1 | NTBT | attributed | validated |
| ICD-11 | LA90.10 | BTNT | attributed | validated |
| ICD-11 | LA90.11 | BTNT | attributed | validated |
| ICD-11 | LA90.12 | BTNT | attributed | validated |
| MONDO | 18720 | E | validated | |
| UMLS | C5681116 | 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 (3):
- ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:2415Rare lymphatic malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo 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/458833
- This record as JSON: /data/d/458833.json