progeria - CISMeF

Preferred Label : progeria;

MeSH definition : An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.; An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature graying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.;

MeSH synonym : hutchinson-gilford syndrome; hutchinson gilford syndrome; Hutchinson-Gilford progeria syndrome; hutchinson gilford progeria syndrome; Hutchinson-Gilford progeria syndromes; progeria syndrome, Hutchinson-Gilford; progeria syndromes, Hutchinson-Gilford;

CISMeF synonym : syndrome, hutchinson-gilford;

Wikipedia link : https://en.wikipedia.org/wiki/Progeria;

Details

Origin ID

D011371;

UMLS CUI

C0033300;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- LMNA wt Allele [NCIt concept]
- Other specified endocrine disorders [ICD-10 Sub-category]
- Other specified endocrine disorders [ICD-10 Sub-category (who)]
- Progeria [ICD-11 More detail]
- Progeria [OMIM phenotypic series]
- Progeria [ACR pathology]
- ROBO3 wt Allele [NCIt concept]
- 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 [NCIt concept]
- progeria [Disease (Nov.)]
- progeria [DO Concept]
- progeria syndrome [SNOMED Notion]
DO Cross reference
- progeria [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
Manual NTBT mappings (CISMeF)
- Ectodermal malformation syndrome associated with ocular features [ORDO Disease]
- Nuclear cell envelopathy [ORDO Disease]
- Primary osteolysis [ORDO Disease]
- Progeroid syndrome [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
MedlinePlus topic(s)
- genetic disorders [MedlinePlus Topic]
ORDO relation(s)
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
Record concept(s)
- progeria [MeSH concept]
Related MeSH Supplementary Concept(s)
- Penttinen-Aula syndrome [MeSH Supplementary Concept]
- acrogeria, gottron type [MeSH Supplementary Concept]
- bird headed dwarfism montreal type [MeSH Supplementary Concept]
- premature aging syndrome, okamoto type [MeSH Supplementary Concept]
- progeria short stature pigmented nevi [MeSH Supplementary Concept]
- progeria syndrome, Childhood-Onset [MeSH Supplementary Concept]
- progeroid facial appearance with hand anomalies [MeSH Supplementary Concept]
- progeroid syndrome, congenital, petty type [MeSH Supplementary Concept]
- progeroid syndrome, neonatal [MeSH Supplementary Concept]
- ruvalcaba churesigaew myhre syndrome [MeSH Supplementary Concept]
See also
- cockayne syndrome [MeSH Descriptor]
- werner syndrome [MeSH Descriptor]
See also (suggested by CISMeF)
- aging, premature [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
- Hutchinson-gilford progeria syndrome [OMIM Phenotype]
- Progeria [MedDRA Preferred Term]
- Progeria [PASCAL descriptor]
- Progeria [NCIt concept]
- progeria [DO Concept]
- progeria [Disease (Nov.)]
- progeria syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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