Arthrogryposis multiplex congenita

Preferred Label : Arthrogryposis multiplex congenita;

Obsolete resource : true;

Moved to : 108120;

Alternative titles and symbols : Amc;

Description : Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). There is also a distal form of arthrogryposis multiplex congenita (see DA1A, 108120) and a lethal congenital form (see LCCS1, 253310).;

Inheritance : Isolated cases;

Prefixed ID : 108110;

Details

Origin ID

108110;

UMLS CUI

C0003886;

Automatic exact mappings (from CISMeF team)
- AIDS Malignancy Consortium [NCIt concept]
- arthrogryposis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Arthrogryposis multiplex congenita [ICD-10 Sub-category]
- Arthrogryposis multiplex congenita [ICD-11 Sub-sub category]
- Arthrogryposis multiplex congenita [ICD-10 Sub-category (who)]
- Arthrogryposis multiplex congenita [HPO term]
- Arthrogryposis multiplex congenita [ORDO Disease]
- Congenital multiplex arthrogryposis [MedDRA Preferred Term]
- amyoplasia congenita disruptive sequence [SNOMED Notion]
- arthrogryposis multiplex congenita [Disease (Nov.)]
False automatic mappings
- Amyoplasia congenita disruptive sequence (disorder) [SNOMED CT concept]
HPO term(s)
- Isolated cases [HPO term]
- Rounded, sloping shoulders [HPO term]
- Small, upturned nose [HPO term]
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 [ICD-10 Sub-category (who)]
- Arthrogryposis multiplex congenita [ICD-10 Sub-category]
- Arthrogryposis multiplex congenita [HPO term]
- Arthrogryposis syndrome [ORDO Disease]
- Congenital multiplex arthrogryposis [MedDRA Preferred Term]
- arthrogryposis [SNOMED Notion]
- arthrogryposis [MeSH Descriptor]
- arthrogryposis [MeSH concept]
- arthrogryposis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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