distal arthrogryposis type 2B

Preferred Label : distal arthrogryposis type 2B;

MeSH synonym : sheldon-hall syndrome; arthrogryposis multiplex congenita, distal, type 2b; arthrogryposis multiplex congenita type 2B; arthrogryposis, distal, type 2b; Freeman-Sheldon syndrome variant; arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities;

Details

Origin ID

C538400;

UMLS CUI

C1834523;

Currated CISMeF NLP mapping
- Arthrogryposis, distal, type 2b1 [OMIM Phenotype]
- Distal arthrogryposis type 2B (disorder) [SNOMED CT concept]
- Sheldon-Hall syndrome [ICD-11 More detail]
- Sheldon-Hall syndrome [ORDO Disease]
- arthrogryposis distal type 2B [Disease (Nov.)]
DO Cross reference
- distal arthrogryposis type 2B [DO Concept]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
Record concept(s)
- Distal arthrogryposis type 2B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, type 2b1 [OMIM Phenotype]
- Distal arthrogryposis type 2B (disorder) [SNOMED CT concept]
- Sheldon-Hall syndrome [ORDO Disease]
- arthrogryposis distal type 2B [Disease (Nov.)]
- distal arthrogryposis type 2B [DO Concept]
Validated automatic mappings to NTBT
- distal arthrogryposis [DO Concept]

Keyword's position in hierarchy(ies) :

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