Van Maldergem Syndrome 1

Preferred Label : Van Maldergem Syndrome 1;

NCIt synonyms : VMLDS1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the DCHS1 gene, encoding protocadherin-16. It is characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, skeletal and limb malformations, and may include renal hypoplasia. Periventricular nodular heterotopia is often noted on MRI.;

Details

Origin ID

C188993;

UMLS CUI

C4551950;

Automatic exact mappings (from CISMeF team)
- Van Maldergem syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Van Maldergem syndrome 1 [DO Concept]
- Van maldergem syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van maldergem syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DCHS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients