growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Preferred Label : growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate;

Origin ID

C537405;

UMLS CUI

C1864652;

Currated CISMeF NLP mapping
- Mandibulofacial dysostosis with microcephaly (disorder) [SNOMED CT concept]
- Mandibulofacial dysostosis, guion-almeida type [OMIM Phenotype]
- Mandibulofacial dysostosis-microcephaly syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
- Prominent philtrum [HPO term]
- Speech delay [HPO term]
MeSH term(s) associated for indexing
- intellectual disability [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
Record concept(s)
- Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibulofacial dysostosis with microcephaly (disorder) [SNOMED CT concept]
- Mandibulofacial dysostosis, guion-almeida type [OMIM Phenotype]
- Mandibulofacial dysostosis-microcephaly syndrome [ORDO Disease]
- mandibulofacial dysostosis, Guion-Almeida type [DO Concept]