ORPHA:620212
Non-syndromic pansynostosis
Synonyms: Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic pansynostosis | Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures |
| fr | Pansynostose non syndromique | Pansynostose isolée · Synostose de toutes les sutures crâniennes non syndromique |
| de | Pansynostose, nicht-syndromale | Isolierte Pansynostose · Nicht-syndromale Synostose aller Nähte des Schädelgewölbes |
| es | Pansinostosis no sindrómica | Pansinostosis aislada · Sinostosis de todas las suturas de la bóveda craneal no sindrómica |
| it | Pansinostosi non sindromica | Pansinostosi isolata · Sinostosi di tutte le suture craniche non sindromica · Sinostosi non sindromica di tutte le suture craniche |
| nl | Niet-syndromale pansynostose | Geïsoleerde pansynostose · Niet-syndromale synostose van alle schedelnaden van schedeldak |
| pt | Pansinostose não-sindromática | |
| pl | Niesyndromiczna pansynostoza | = en |
| cs | Nesyndromická pansynostóza | = en |
| uk | Несиндромальний пансиностоз | Ізольований пансиностоз · Несиндромний синостоз усіх швів склепіння черепа |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.0 | NTBT | attributed | validated |
| ICD-11 | LB70.0Y | NTBT | attributed | validated |
| MONDO | 0850084 | E | validated | |
| UMLS | C5680392 | 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:620152Non-syndromic multisutural craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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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/620212
- This record as JSON: /data/d/620212.json