1p36 Deletion Syndrome

Preferred Label : 1p36 Deletion Syndrome;

NCIt synonyms : 1p Telomere Deletion Syndrome; Chromosome 1p36 Deletion Syndrome;

NCIt definition : A rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance (microcephaly, deep set eyes, flat nose, and pointed chin), developmental abnormalities, mental retardation, seizures, hypotonia, hearing loss, and heart defects.;

Details

Origin ID

C74983;

UMLS CUI

C1842870;

Automatic exact mappings (from CISMeF team)
- 1p36 deletion syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- 1p36 deletion [ICD-11 More detail]
- 1p36 deletion syndrome [ORDO Disease]
- Chromosome 1p36 deletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 1p36 deletion syndrome, distal [OMIM Phenotype]
- chromosome 1p36 deletion syndrome [MeSH Supplementary Concept]
- chromosome 1p36 deletion syndrome [MeSH concept]
- chromosome 1p36 deletion syndrome [Disease (Nov.)]
- chromosome 1p36 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 1p36 deletion syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 1p36 deletion [ICD-11 More detail]
- 1p36 deletion syndrome [ORDO Disease]
- 1p36 deletion syndrome [MedDRA Preferred Term]
- Chromosome 1p36 deletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 1p36 deletion syndrome, distal [OMIM Phenotype]
- chromosome 1p36 deletion syndrome [MeSH Supplementary Concept]
- chromosome 1p36 deletion syndrome [MeSH concept]
- chromosome 1p36 deletion syndrome [DO Concept]
- chromosome 1p36 deletion syndrome [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- del(1p36) [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 1 [NCIt concept]

Keyword's position in hierarchy(ies) :

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