Schisis association
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schisis association | |
| fr | Schisis association | |
| de | Schisis-Assoziation | |
| es | Asociación esquisis | |
| it | Associazione fra schisi | |
| nl | Schisisassociatie | |
| pt | Esquisis, associação | |
| pl | Asocjacja SCHISIS | |
| cs | Vícečetný rozštěp | |
| uk | Шизіс асоціація | |
| zh | 裂联合征 | |
| tr | Şizis ilişkisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018976 | E | validated | |
| MeSH | C536633 | E | validated | |
| UMLS | C2931271 | E | validated | |
| GARD | 246 | 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:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; 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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002323 | Anencephaly | |
| HP:0000175 | Cleft palate | |
| HP:0001539 | Omphalocele | |
| HP:0001622 | Premature birth | |
| HP:0001518 | Small for gestational age | |
| HP:0100333 | Unilateral cleft lip | |
| Frequent (79-30%) | ||
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002084 | Encephalocele | |
| HP:0002414 | Spina bifida | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002023 | Anal atresia | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0000104 | Renal agenesis | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 7294060[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/63862
- This record as JSON: /data/d/63862.json