Open spinal dysraphism with a myelomeningocele
Synonyms: MMC · Myelomeningocele
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of spina bifida cystica (saccular, open neural tube defect (NTD)) characterized by a non-neurulated spinal cord (neural placode) on the surface of the cystic extension of dysplastic meninges (non-epidermised posterior meningocele). The spinal cord extends through a spina bifida (posterior vertebral defect) with typically everted or parallel laminae. Nerve roots are connected to the borders of the neural placode and are visible inside the sac. Myelomeningocele is characteristically associated with a Chiari II malformation. It can be either isolated or associated with split cord malformation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Open spinal dysraphism with a myelomeningocele | MMC · Myelomeningocele |
| fr | Dysraphisme spinal ouvert associé à une myéloméningocèle | MMC · Myéloméningocèle |
| de | Offene spinale Dysraphie mit Myelomeningozele | MMC · Myelomeningozele |
| es | Disrafismo espinal abierto con mielomeningocele | MMC · Mielomeningocele |
| it | Disrafismo spinale aperto con mielomeningocele | MMC · Mielomeningocele |
| nl | Open spinale dysrafie met myelomeningocele | = en |
| pt | Disrafismo medular aberto com mielomeningocelo | MMC · Mielomeningocelo |
| pl | Przepuklina oponowo-rdzeniowa | Otwarta wada dysraficzna kręgosłupa z przepukliną oponowo-rdzeniową |
| cs | Meningomyelokéla | = en |
| uk | Відкрита спінальна дизрафія з мієломенінгоцеле | MMC · Мієломенінгоцеле |
| zh | 脊髓脊膜膨出 | |
| tr | Miyelomeningosel |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q05.0 | NTBT | attributed | validated |
| ICD-10 | Q05.1 | NTBT | attributed | validated |
| ICD-10 | Q05.2 | NTBT | attributed | validated |
| ICD-10 | Q05.3 | NTBT | attributed | validated |
| ICD-10 | Q05.4 | NTBT | attributed | validated |
| ICD-10 | Q05.5 | NTBT | attributed | validated |
| ICD-10 | Q05.6 | NTBT | attributed | validated |
| ICD-10 | Q05.7 | NTBT | attributed | validated |
| ICD-10 | Q05.8 | NTBT | attributed | validated |
| ICD-10 | Q05.9 | NTBT | attributed | validated |
| ICD-11 | LA02.1 | NTBT | attributed | validated |
| MONDO | 0019773 | E | validated | |
| UMLS | C5781264 | E | validated | |
| GARD | 3475 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:645270Open spinal dysraphism with a posterior meningocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:1136OBSOLETE: Arnold-Chiari malformation type II referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93969
- This record as JSON: /data/d/93969.json