Microcephaly, corpus callosum dysgenesis, and cleft lip/palate

Preferred Label : Microcephaly, corpus callosum dysgenesis, and cleft lip/palate;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601420;

Détails

Origin ID

601420;

UMLS CUI

C1832369;

Automatic exact mappings (from CISMeF team)
- Microcephaly, corpus callosum dysgenesis and cleft lip-palate [MeSH concept]
- microcephaly, corpus callosum dysgenesis and cleft lip-palate [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Microcephaly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Proptosis [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly, corpus callosum dysgenesis and cleft lip-palate [MeSH concept]
- microcephaly, corpus callosum dysgenesis and cleft lip-palate [MeSH Supplementary Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients