Pseudotrisomy 13 syndrome

Preferred Label : Pseudotrisomy 13 syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Holoprosencephaly-polydactyly syndrome;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Normal karyotype;

Prefixed ID : 264480;

Details

Origin ID

264480;

UMLS CUI

C1849649;

Currated CISMeF NLP mapping
- Holoprosencephaly and postaxial polydactyly syndrome (disorder) [SNOMED CT concept]
- Holoprosencephaly-postaxial polydactyly syndrome [ORDO Disease]
- Pseudotrisomy 13 Syndrome [NCIt concept]
- Pseudotrisomy 13 syndrome [MeSH concept]
- pseudotrisomy 13 syndrome [MeSH Supplementary Concept]
HPO term(s)
- 11 pairs of ribs [HPO term]
- 2-3 toe syndactyly [HPO term]
- Abnormality of the respiratory system [HPO term]
- Adrenal hypoplasia [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cleft upper lip [HPO term]
- Coarctation of aorta [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Cryptorchidism [HPO term]
- Cyclopia [HPO term]
- Dextrocardia [HPO term]
- Encephalocele [HPO term]
- Generalized hypotonia [HPO term]
- Hemivertebrae [HPO term]
- Holoprosencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Low-set ears [HPO term]
- Median cleft lip and palate [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Omphalocele [HPO term]
- Polymicrogyria [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia [HPO term]
- Tricuspid atresia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Holoprosencephaly-postaxial polydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly and postaxial polydactyly syndrome (disorder) [SNOMED CT concept]
- Holoprosencephaly-postaxial polydactyly syndrome [ORDO Disease]
- Pseudotrisomy 13 Syndrome [NCIt concept]
- Pseudotrisomy 13 syndrome [MeSH concept]
- pseudotrisomy 13 syndrome [MeSH Supplementary Concept]

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