ORPHA:86914
Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Adolescent
- Status
- historical
Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome | |
| fr | Syndrome de lymphoedème-anomalie cérébrale artérioveineuse-hypertension pulmonaire primitive | Syndrome de lymphoedème-anomalie cérébrale artérioveineuse-hypertension pulmonaire idiopathique |
| de | Lymphödem-zerebrale arteriovenöse Fehlbildung-primäre pulmonale Hypertonie-Syndrom | |
| es | Síndrome de linfedema-anomalía arteriovenosa cerebral-hipertensión pulmonar primaria | |
| it | Sindrome da linfedema-anomalie arterovenose cerebrali-ipertensione polmonare primitiva | |
| nl | Lymfoedeem - cerebrale arterioveneuze anomalie - primaire pulmonale hypertensie-syndroom | |
| pt | Síndrome de linfedema-anomalia arteriovenosa cerebral-hipertensão pulmonar primária | |
| pl | Zespół obrzęku limfatycznego-anomalii tętniczo-żylnej mózgu | Zespół obrzęku limfatycznego, anomalii tętniczo-żylnej mózgu oraz pierwotnego nadciśnienia płucnego |
| cs | Syndrom zahrnující lymfedém a arteriovenózní anomálie v mozku | |
| uk | Синдром лімфедеми-церебральної артеріовенозної аномалії-первинної легеневої гіпертензії | |
| zh | 淋巴水肿-脑动静脉异常综合征 | |
| tr | Lenfödem-serebral arteriyovenöz anomali sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 152900 | E | validated | |
| ICD-10 | Q28.3 | NTBT | attributed | validated |
| MONDO | 0007917 | E | validated | |
| UMLS | C4302917 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:211277Syndromic combined vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86914
- This record as JSON: /data/d/86914.json