Birk-Barel mental retardation dysmorphism syndrome

Preferred Label : Birk-Barel mental retardation dysmorphism syndrome;

MeSH synonym : mental retardation with hypotonia and facial dysmorphism; Birk-Barel syndrome; KCNK9 imprinting syndrome; Birk-Barel intellectual disability syndrome;

Details

Origin ID

C567357;

UMLS CUI

C2676770;

Automatic exact mappings (from CISMeF team)
- Birk-Barel syndrome [DO Concept]
Currated CISMeF NLP mapping
- Birk-barel syndrome [OMIM Phenotype]
- Intellectual disability Birk-Barel type (disorder) [SNOMED CT concept]
- Intellectual disability, Birk-Barel type [ORDO Disease]
DO Cross reference
- Birk-Barel syndrome [DO Concept]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
Record concept(s)
- Birk-Barel mental retardation dysmorphism syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Birk-barel syndrome [OMIM Phenotype]
- Intellectual disability Birk-Barel type (disorder) [SNOMED CT concept]
- Intellectual disability, Birk-Barel type [ORDO Disease]

Keyword's position in hierarchy(ies) :

Main resources

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