KBG syndrome - CISMeF

Preferred Label : KBG syndrome;

MeSH synonym : short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies;

Details

Origin ID

C537015;

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]
DO Cross reference
- KBG syndrome [DO Concept]
Has phenotype(s) (HPO)
- Large, prominent ears [HPO term]
- broad, bushy eyebrows [HPO term]
- triangular facies later in life [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- facies [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- tooth abnormalities [MeSH Descriptor]
ORDO relation(s)
- KBG syndrome [ORDO Disease]
Record concept(s)
- KBG syndrome [MeSH 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]

Keyword's position in hierarchy(ies) :

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