Arthrogryposis multiplex congenita

Preferred Label : Arthrogryposis multiplex congenita;

Diag associé à un acte (%) : 80.6;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q743;

UMLS CUI

C5779613;

Automatic exact mappings (from CISMeF team)
- Arthrogryposis (disorder) [SNOMED CT concept]
- arthrogryposis [MeSH Descriptor]
- distal arthrogryposis [DO Concept]
Currated CISMeF NLP mapping
- Arthrogryposis multiplex congenita [HPO term]
- Arthrogryposis multiplex congenita [ORDO Disease]
- Arthrogryposis multiplex congenita [OMIM Phenotype]
- Arthrogryposis multiplex congenita [ICD-10 Sub-category (who)]
- Arthrogryposis multiplex congenita [ICD-11 Sub-sub category]
- Arthrogryposis multiplex congenita [OMIM phenotypic series]
- Arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
- Congenital multiplex arthrogryposis [MedDRA Preferred Term]
- amyoplasia congenita disruptive sequence [SNOMED Notion]
- arthrogryposis multiplex congenita [Disease (Nov.)]
Excluded by
- Other and unspecified myopathies [ICD-10 category]
- Primary disorders of muscles [ICD-10 category]
False automatic mappings
- Amyoplasia congenita disruptive sequence (disorder) [SNOMED CT concept]
Manual NTBT mappings (CISMeF)
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
- Crisponi syndrome [ORDO Disease]
- Fetal akinesia deformation sequence [ORDO Disease]
- Infantile-onset X-linked spinal muscular atrophy [ORDO Disease]
- Marden-Walker syndrome [ORDO Disease]
- Neurogenic arthrogryposis multiplex congenita [ORDO Disease]
- Van den Ende-Gupta syndrome [ORDO Disease]
Orphanet concepts
- Arthrogryposis multiplex congenita [ORDO Disease]
- Autosomal recessive myogenic arthrogryposis multiplex congenita [ORDO Disease]
- MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome [ORDO Disease]
- Neurogenic arthrogryposis multiplex congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis [NCIt concept]
- Arthrogryposis [HRDO Sign]
- Arthrogryposis [PASCAL descriptor]
- Arthrogryposis (disorder) [SNOMED CT concept]
- Arthrogryposis multiplex congenita [HPO term]
- Arthrogryposis multiplex congenita [OMIM Phenotype]
- Arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
- Arthrogryposis syndrome [ORDO Disease]
- Congenital multiplex arthrogryposis [MedDRA Preferred Term]
- arthrogryposis [MeSH Descriptor]
- arthrogryposis [MeSH concept]
- arthrogryposis [SNOMED Notion]
- arthrogryposis [Disease (Nov.)]
Validated automatic mappings to BTNT
- neurogenic-type arthrogryposis multiplex congenita-2 [DO Concept]

Keyword's position in hierarchy(ies) :

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