ORPHA:82004
Ehlers-Danlos syndrome with periventricular heterotopia
inactive · moved to ORPHA:98892Periventricular nodular heterotopia
Synonyms: EDS with periventricular heterotopia · Filamin A-related EDS with periventricular nodular heterotopia
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Periventricular nodular heterotopia
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ehlers-Danlos syndrome with periventricular heterotopia | EDS with periventricular heterotopia · Filamin A-related EDS with periventricular nodular heterotopia |
| fr | Syndrome d'Ehlers-Danlos avec hétérotopie périventriculaire | EDS-hétérotopie nodulaire périventriculaire · SED-hétérotopie nodulaire périventriculaire · Syndrome d'Ehlers-Danlos avec hétérotopie nodulaire périventriculaire liée à la filamine A |
| de | Ehlers-Danlos-Syndrom mit periventrikulärer Heterotopie | EDS mit periventrikulärer Heterotopie · Filamin A-assoziiertes EDS mit periventrikulärer nodulärer Heterotopie |
| es | Síndrome de Ehlers-Danlos con heterotopía periventricular | SED asociado a filamina A con heterotopía periventricular nodular · SED con heterotopía periventricular |
| it | Sindrome di Ehlers-Danlos con eterotopia periventricolare | EDS con eterotopia periventricolare |
| nl | Syndroom van Ehlers-Danlos met periventriculaire heterotopie | EDS met periventriculaire heterotopie · Filamine A-gerelateerd EDS met periventriculaire nodulaire heterotopie |
| pt | Síndrome Ehlers-Danlos com heterotopia periventricular | EDS com heterotopia periventricular |
| pl | Zespół Ehlersa-Danlosa z okołokomorową heterotopią | EDS z okołokomorową heterotopią |
| cs | Ehlersův-Danlosův syndrom s periventrikulární heterotopií | EDS s periventrikulární heterotopií · Ehlers-Danlosův syndrom s periventrikulární heterotopií |
| uk | Синдром Елерса-Данлоса з перивентрикулярною гетеротопією | EDS з перивентрикулярною гетеротопією · Філамін А-залежний EDS з перивентрикулярною вузлуватою гетеротопією |
| zh | 埃-当综合征伴脑室周围灰质异位 | EDS伴脑室旁小结异位 |
| tr | Periventriküler heterotopi ile seyreden Ehlers-Danlos sendromu | Periventriküler nodüler heterotopili filamin A ile seyreden EDS · Periventriküler heterotopili EDS |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C1845235 | 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
Not placed in any Orphanet classification in this release.
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/82004
- This record as JSON: /data/d/82004.json