van maldergem wetzburger verloes syndrome

Preferred Label : van maldergem wetzburger verloes syndrome;

MeSH synonym : van maldergem syndrome; cerebrofacioarticular syndrome; cerebro-facio-articular syndrome; cerebro-facio-articular syndrome of van maldergem;

Details

Origin ID

C536530;

UMLS CUI

C1832390;

Automatic exact mappings (from CISMeF team)
- Van maldergem syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Cerebrofacioarticular syndrome [ORDO Disease]
- Cerebrofacioarticular syndrome (disorder) [SNOMED CT concept]
- Van Maldergem syndrome [DO Concept]
- Van maldergem syndrome 1 [OMIM Phenotype]
DO Cross reference
- Van Maldergem syndrome [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- joint instability [MeSH Descriptor]
Record concept(s)
- Van Maldergem Wetzburger Verloes syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrofacioarticular syndrome [ORDO Disease]
- Cerebrofacioarticular syndrome (disorder) [SNOMED CT concept]
- Van Maldergem syndrome [DO Concept]
- Van maldergem syndrome 1 [OMIM Phenotype]
Validated automatic mappings to BTNT
- Van Maldergem syndrome 1 [DO Concept]

Keyword's position in hierarchy(ies) :

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