Isolated posterior meningocele
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated posterior meningocele | |
| fr | Méningocèle postérieure isolée | |
| de | Meningozele, isolierte posteriore | |
| es | Meningocele posterior aislado | |
| it | Meningocele posteriore isolato | |
| nl | Geïsoleerde posterieure meningocele | |
| pt | Meningocelo posterior isolado | |
| pl | Przepuklina oponowa tylna | Izolowana tylna przepuklina oponowa |
| cs | Zadní meningokéla | |
| uk | Ізольоване заднє менінгоцеле | |
| zh | 后脑膜膨出 | |
| tr | Posterior meningosel |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q05.2 | NTBT | attributed | validated |
| ICD-10 | Q05.3 | NTBT | attributed | validated |
| ICD-10 | Q05.7 | NTBT | attributed | validated |
| ICD-10 | Q05.8 | NTBT | attributed | validated |
| ICD-11 | LA02.0Y | NTBT | index | validated |
| MONDO | 0017076 | E | validated | |
| MONDO | 17076 | E | validated | |
| UMLS | C5680741 | 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 (2):
- ORPHA:645202Closed spinal dysraphism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:268744Spinal dysraphism with a posterior meningocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
21 annotations · validated 2019-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002435 | Meningocele | |
| HP:0045005 | Neural tube defect | |
| Frequent (79-30%) | ||
| HP:0001347 | Hyperreflexia | |
| Occasional (29-5%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0002607 | Bowel incontinence | |
| HP:0002308 | Chiari malformation | |
| HP:0000805 | Enuresis | |
| HP:0001288 | Gait disturbance | |
| HP:0000238 | Hydrocephalus | |
| HP:0100565 | Hydromyelia | |
| HP:0001276 | Hypertonia | |
| HP:0002375 | Hypokinesia | |
| HP:0040194 | Increased head circumference | |
| HP:0005986 | Limitation of neck motion | |
| HP:0025480 | Lipomyelomeningocele | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002436 | Occipital meningocele | |
| HP:0010550 | Paraplegia | |
| HP:0002144 | Tethered cord | |
| HP:0008467 | Thoracic hemivertebrae | |
| HP:0006986 | Upper limb spasticity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 2072156[PMID]_3652068[PMID]_20464651[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268810
- This record as JSON: /data/d/268810.json