Distal Trisomy 2p

Preferred Label : Distal Trisomy 2p;

NCIt definition : A chromosomal anomaly characterized by the partial duplication of the short arm of chromosome 2. The phenotype is highly variable but principally characterized by growth failure, global developmental delay, facial dysmorphism and ocular anomalies.;

NCI Metathesaurus CUI : CL1773610;

Details

Origin ID

C185241;

UMLS CUI

C4706937;

Currated CISMeF NLP mapping
- Distal trisomy 2p [ORDO Disease]
- Distal trisomy 2p (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal trisomy 2p (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 2 [NCIt concept]

Keyword's position in hierarchy(ies) :

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