Progeria - CISMeF

Preferred Label : Progeria;

NCIt synonyms : Premature Senility Syndrome; Hutchinson-Gilford Disease; Hutchinson-Gilford Progeria Syndrome;

NCIt definition : A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.;

Details

Origin ID

C34951;

UMLS CUI

C0033300;

Automatic exact mappings (from CISMeF team)
- Other specified endocrine disorders [ICD-10 Sub-category]
- Other specified endocrine disorders [ICD-10 Sub-category (who)]
- Premature senility syndrome [ICD-11 More detail]
- Progeria [ACR pathology]
- Progeria [ICD-11 More detail]
- Progeria [OMIM phenotypic series]
- genetic disorders [MedlinePlus Topic]
- zinc metallopeptidase STE24 [ORDO Gene]
- zinc metallopeptidase STE24 [HGNC gene]
Currated CISMeF NLP mapping
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
- Hutchinson-gilford progeria syndrome [OMIM Phenotype]
- Progeria [PASCAL descriptor]
- Progeria [MedDRA Preferred Term]
- progeria [Disease (Nov.)]
- progeria [DO Concept]
- progeria [MeSH Descriptor]
- progeria [MeSH concept]
- progeria syndrome [SNOMED Notion]
DO Cross reference
- progeria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
- Hutchinson-gilford progeria syndrome [OMIM Phenotype]
- Progeria [PASCAL descriptor]
- Progeria [MedDRA Preferred Term]
- progeria [DO Concept]
- progeria [Disease (Nov.)]
- progeria [MeSH Descriptor]
- progeria [MeSH concept]
- progeria syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LMNA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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