Cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease

Preferred Label : Cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601165;

Détails

Origin ID

601165;

UMLS CUI

C2931750;

Currated CISMeF NLP mapping
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome [ORDO Disease]
- McPherson Clemens syndrome [MeSH concept]
- McPherson clemens syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal hand morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the tongue [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral cleft lip and palate [HPO term]
- Broad palm [HPO term]
- Cleft upper lip [HPO term]
- Flat face [HPO term]
- Flat occiput [HPO term]
- Hypertelorism [HPO term]
- Intestinal malrotation [HPO term]
- Large for gestational age [HPO term]
- Malar flattening [HPO term]
- Minor hand anomalies [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
- Pancreatic islet-cell hypertrophy [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Short broad hands [HPO term]
- Short palm [HPO term]
- Visceromegaly [HPO term]
ORDO concept(s)
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) [SNOMED CT concept]
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome [ORDO Disease]
- McPherson Clemens syndrome [MeSH concept]
- McPherson clemens syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients