Chromosome 16p12.1 Deletion Syndrome

Preferred Label : Chromosome 16p12.1 Deletion Syndrome;

NCIt synonyms : Chromosome 16p12.1 Deletion Syndrome, 520-KB;

NCIt definition : A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.;

Details

Origin ID

C129875;

UMLS CUI

C3149276;

Automatic exact mappings (from CISMeF team)
- chromosome 16p12.1 deletion syndrome [DO Concept]
CISMeF manual mappings
- Chromosome 16p12.1 deletion syndrome, 520-kb [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 16p12.1 deletion syndrome, 520-kb [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 16 [NCIt concept]

Keyword's position in hierarchy(ies) :

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