ORPHA:178148
Antenatal multiminicore disease with arthrogryposis multiplex congenita
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal
- Status
- active
This disease is described under Multiminicore myopathy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Antenatal multiminicore disease with arthrogryposis multiplex congenita | |
| fr | Myopathie à multi-minicores anténatale avec arthrogrypose multiple congénitale | |
| de | Multiminicore-Krankheit, pränatale, mit kongenitaler Arthrogryposis multiplex | |
| es | Miopatía de multiminicores prenatal con artrogriposis múltiple congénita | |
| it | Malattia multiminicore prenatale con artrogriposi multipla congenita | |
| nl | Antenatale multi-minicore ziekte met arthrogryposis multiplex congenita | |
| pt | Doença multiminocore antenatal com artrogripose múltipla congénita | |
| pl | Prenatalna choroba multiminicore z artrogrypozą | |
| cs | Prenatální multi-mini core nemoc s arthrogryposis multiplex congenita | |
| uk | Антенатальна мультимініядерна хвороба з вродженим множинним артрогрипозом | |
| zh | 胎儿多轴空病伴先天性多发性关节挛缩 | |
| tr | Doğumsal artrogripozis multipleks ile seyreden antenatal multiminikor hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.0Y | NTBT | index | validated |
| MONDO | 0015794 | E | validated | |
| MeSH | C537474 | E | validated | |
| UMLS | C1843691 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:598Multiminicore myopathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
21 annotations · validated 2018-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008050 | Abnormality of the palpebral fissures | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0003327 | Axial muscle weakness | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0030084 | Clinodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000268 | Dolichocephaly | |
| HP:0001371 | Flexion contracture | |
| HP:0000218 | High palate | |
| HP:0100297 | Increased endomysial connective tissue | |
| HP:0000369 | Low-set ears | |
| HP:0003789 | Minicore myopathy | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0002792 | Reduced vital capacity | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000465 | Webbed neck | |
| Occasional (29-5%) | ||
| HP:0002808 | Kyphosis | |
Annotation source: 11079538[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178148
- This record as JSON: /data/d/178148.json