arthrogryposis multiplex congenita, distal type 1

Preferred Label : arthrogryposis multiplex congenita, distal type 1;

MeSH synonym : arthrogryposis, distal, type 1; distal arthrogryposis, type 1; AMCD1; arthrogryposis multiplex congenita, distal, type I; distal arthrogryposis type 1;

Is substance : O;

Details

Origin ID

C535378;

UMLS CUI

C0220662;

CISMeF manual mappings
- Distal arthrogryposis type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Digitotalar dysmorphism [ICD-11 More detail]
DO Cross reference
- distal arthrogryposis type 1A [DO Concept]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
Record concept(s)
- Arthrogryposis multiplex congenita, distal type 1 [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis, distal, type 1a [OMIM Phenotype]
- Distal arthrogryposis type 1 (disorder) [SNOMED CT concept]
- distal arthrogryposis type 1A [DO Concept]
Validated automatic mappings to BTNT
- Arthrogryposis, distal, type 1a [OMIM Phenotype]
- Arthrogryposis, distal, type 1b [OMIM Phenotype]

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