Split cord malformation, composite type
Synonyms: Split cord malformation type 1.5 · Split cord malformation, intermediate type · Split cord malformation, mixed type
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Status
- active
A rare intermediate form of split cord malformation characterized by both hemichords encapsulated in a single dural sac with presence of an incomplete ventral or dorsal bony spur.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Split cord malformation, composite type | Split cord malformation type 1.5 · Split cord malformation, intermediate type · Split cord malformation, mixed type |
| fr | Malformation du cordon médullaire divisé, type composite | |
| de | Split-Cord-Malformation, kombinierter Typ | Split cord malformation, intermediärer Typ · Split-Cord-Malformation Typ 1.5 · Split-Cord-Malformation, gemischter Typ |
| es | Malformación de médula espinal hendida, tipo compuesto | Malformación de médula espinal hendida, tipo 1.5 · Malformación de médula espinal hendida, tipo intermedio · Malformación de médula espinal hendida, tipo mixto |
| it | Malformazione da fissurazione longitudinale del midollo spinale tipo composito | Malformazione da fissurazione longitudinale del midollo spinale tipo 1.5 · Malformazione da fissurazione longitudinale del midollo spinale tipo intermedio · Malformazione da fissurazione longitudinale del midollo spinale tipo misto |
| nl | Gespleten ruggenmerg-malformatie, samengesteld type | Gespleten ruggenmerg-malformatie type 1.5 · Gespleten ruggenmerg-malformatie, gemengd type · Gespleten ruggenmerg-malformatie, intermediair type |
| pt | Malformação de espinha bífida, tipo composto | Malformação de espinha bífida, tipo 1.5 · Malformação de espinha bífida, tipo intermédio · Malformação de espinha bífida, tipo misto |
| pl | Rozszczep rdzenia, typ złożony | = en |
| cs | Malformace s rozštěpem míchy, složený typ | = en |
| uk | Розщеплена пуповина, комбінований тип | Розщеплення пуповини, тип 1.5 · Розщеплення пуповини, проміжний тип · Розщеплення пуповини, змішаний тип |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q06.2 | NTBT | attributed | validated |
| ICD-11 | LA07.1 | NTBT | attributed | validated |
| UMLS | C5816809 | 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:573278Split cord malformation
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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 34802216[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34802216[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/633076
- This record as JSON: /data/d/633076.json