brachydactyly type A6

Preferred Label : brachydactyly type A6;

MeSH note : Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities;

MeSH synonym : Osebold-Remondini syndrome; brachydactyly, type A6;

Details

Origin ID

C537092;

UMLS CUI

C1862130;

Automatic exact mappings (from CISMeF team)
- Diamond-blackfan anemia 6 [OMIM Phenotype]
CISMeF manual mappings
- Brachydactyly type A6 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachydactyly type A6 [ICD-11 More detail]
- Brachydactyly type A6 [ORDO Disease]
- Osebold-remondini syndrome [OMIM Phenotype]
- brachydactyly type A6 [DO Concept]
DO Cross reference
- brachydactyly type A6 [DO Concept]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
ORDO relation(s)
- Brachydactyly type A6 [ORDO Disease]
Record concept(s)
- Brachydactyly type A6 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly type A6 [ORDO Disease]
- Brachydactyly type A6 [ICD-11 More detail]
- Brachydactyly type A6 (disorder) [SNOMED CT concept]
- Osebold-remondini syndrome [OMIM Phenotype]
- brachydactyly type A6 [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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