genetic disorders

Preferred Label : genetic disorders;

MedlinePlus synonym : progeria;

Details

Origin ID

T33;

UMLS CUI

C0019247;

Automatic exact mappings (from CISMeF team)
- Barth syndrome [ORDO Disease]
- Barth syndrome [MedDRA Preferred Term]
- Batten's disease [MedDRA LLT]
- Hutchinson-Gilford progeria syndrome [ORDO Disease]
- Hutchinson-gilford progeria syndrome [OMIM Phenotype]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Other specified endocrine disorders [ICD-10 Sub-category]
- Progeria [PASCAL descriptor]
- Progeria [ICD-11 More detail]
- Progeria [OMIM phenotypic series]
- Progeria [ACR pathology]
- Progeria [NCIt concept]
- Progeria [MedDRA Preferred Term]
- Rare genetic disease [ORDO Disease]
- barth syndrome [MeSH Descriptor]
- progeria [DO Concept]
- progeria [MeSH Descriptor]
- progeria [MeSH concept]
False UMLS correspondences (reviewed by CISMeF team)
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
False automatic mappings
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
MeSH descriptor(s)
- genetic diseases, inborn [MeSH Descriptor]
- progeria [MeSH Descriptor]
See also
- birth defects [MedlinePlus Topic]
- brain malformations [MedlinePlus Topic]
- celiac disease [MedlinePlus Topic]
- cleft lip and palate [MedlinePlus Topic]
- cystic fibrosis [MedlinePlus Topic]
- down syndrome [MedlinePlus Topic]
- dwarfism [MedlinePlus Topic]
- fragile x syndrome [MedlinePlus Topic]
- genes and gene therapy [MedlinePlus Topic]
- genetic brain disorders [MedlinePlus Topic]
- genetic counseling [MedlinePlus Topic]
- genetic testing [MedlinePlus Topic]
- hemochromatosis [MedlinePlus Topic]
- leukodystrophies [MedlinePlus Topic]
- osteogenesis imperfecta [MedlinePlus Topic]
- phenylketonuria [MedlinePlus Topic]
- prader-willi syndrome [MedlinePlus Topic]
- rare diseases [MedlinePlus Topic]
- sickle cell disease [MedlinePlus Topic]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- inborn genetic disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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