KBG syndrome - CISMeF

Preferred Label : KBG syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0531476;

UMLS CUI

C0220687;

Automatic exact mappings (from CISMeF team)
- KBG syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- KBG syndrome [DO Concept]
- KBG syndrome [Disease (Nov.)]
- KBG syndrome [ICD-11 More detail]
- KBG syndrome [ORDO Disease]
- Kbg syndrome [OMIM Phenotype]
- Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Large, prominent ears [HPO term]
- broad, bushy eyebrows [HPO term]
- triangular facies later in life [HPO term]
Related record
- KBG syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- KBG syndrome [ORDO Disease]
- KBG syndrome [DO Concept]
- KBG syndrome [Disease (Nov.)]
- KBG syndrome [MedDRA Preferred Term]
- Kbg syndrome [OMIM Phenotype]
- Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) [SNOMED CT concept]