ORPHA:645401
True myeloschisis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Unknown
- Status
- active
A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | True myeloschisis | |
| fr | Myéloschisis vrai | |
| de | Echte Myeloschisis | |
| es | Mielosquisis verdadera | |
| it | Mieloschisi vera | |
| nl | Ware myeloschisis | |
| pt | Mielosquise verdadeira | |
| pl | Prawdziwy rozszczep rdzenia kręgowego | |
| cs | Pravá myeloschíza | |
| uk | Істинний мієлошизис |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0958352 | E | validated | |
| UMLS | C5816711 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:645398Myeloschisis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/645401
- This record as JSON: /data/d/645401.json