ORPHA:645383
True myelomeningocele
Synonyms: True MMC
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Unknown
- Status
- active
A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | True myelomeningocele | True MMC |
| fr | Myéloméningocèle vrai | MMC vrai |
| de | Echte Myelomeningozele | Echte MMC |
| es | Mielomeningocele verdadero | MMC verdadero |
| it | Mielomeningocele vero | MMC vero |
| nl | Ware myelomeningocele | Ware MMC |
| pt | Mielomeningocelo verdadeiro | MMC verdadeiro |
| pl | Prawdziwa przepuklina oponowo-rdzeniowa | = en |
| cs | Pravá myelomeningokéla | = en |
| uk | Істинне мієломенінгоцеле | Справжній MMC |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0957453 | E | validated | |
| UMLS | C5816713 | 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:93969Open spinal dysraphism with a myelomeningocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological 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/645383
- This record as JSON: /data/d/645383.json