Distal 18q Deletion Syndrome

Preferred Label : Distal 18q Deletion Syndrome;

Alternative definition : NICHD: A contiguous gene deletion syndrome involving deletion of the distal portion of the long arm of chromosome 18. The clinically heterogenous condition is characterized by some or all of the following: growth hormone deficiency with resulting short stature; hand, foot, skull, facial, and genital anomalies; hypotonia; and developmental delay.;

NCI Metathesaurus CUI : CL496025;

Details

Origin ID

C130986;

UMLS CUI

C4329736;

Currated CISMeF NLP mapping
- Distal chromosome 18q deletion syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal chromosome 18q deletion syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 18 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients