ORPHA:423655
ARX-related encephalopathy-brain malformation spectrum
- Type
- Clinical group
- Group
- Group of disorders
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ARX-related encephalopathy-brain malformation spectrum | |
| fr | Spectre d'encéphalopathie-malformation cérébrale lié à ARX | |
| de | ARX-bedingtes Enzephalopathie-Hirnfehlbildungs-Spektrum | |
| es | Espectro de encefalopatía-malformación cerebral ligado al cromosoma X | |
| it | Spettro encefalopatia-malformazioni cerebrali, legato all'X | |
| nl | ARX-gerelateerd encefalopathie - hersenmalformatie-spectrum | |
| pt | Espectro clínico de malformação cerebral-encefalopatia ARX-relacionada | |
| pl | Encefalopatia związana z ARX-spektrum malformacji mózgu | |
| cs | ARX vázané spektrum zahrnující encefalopatii a malformace mozku | |
| uk | Енцефалопатія, повязана з ARX- спектр вад розвитку головного мозку | |
| zh | ARX相关脑病-脑畸形谱 | |
| tr | ARX -ilişkili ensefalopati-beyin malformasyon spektrumu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18496 | E | validated | |
| UMLS | C5681206 | 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 (6):
- ORPHA:182079ARX-related epileptic encephalopathy
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
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Genes
0 directOrphanet records no gene directly on this code.
5
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/423655
- This record as JSON: /data/d/423655.json