genetic diseases, inborn

Preferred Label : genetic diseases, inborn;

MeSH definition : Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.;

MeSH synonym : disease, inborn genetic; diseases, inborn genetic; genetic disease, inborn; inborn genetic disease; inborn genetic diseases;

DeCS synonym : Genetic Disorder; Genetic Disease; Genetic Diseases; Genetic Disorders;

MeSH hyponym : hereditary diseases; Hereditary Disease; Disease, Hereditary; Diseases, Hereditary; Genetic Disorders; Disorder, Genetic; Disorders, Genetic; Genetic Disorder; Genetic Diseases; Disease, Genetic; Diseases, Genetic; Genetic Disease;

Related MeSH term : Single-Gene defects; Defect, Single-Gene; Defects, Single-Gene; Single Gene Defects; Single-Gene Defect;

MeSH annotation : GEN only: prefer /genet with specific diseases; Manual 23.22 ; Manual 19.8.34; general; prefer /genet with specific diseases;

Wikipedia link : https://en.wikipedia.org/wiki/Genetic disorder;

Details

Origin ID

D030342;

UMLS CUI

C0950123;

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)
- Ghost sickness (disorder) [SNOMED CT concept]
- Lethal congenital contracture syndrome type 1 (disorder) [SNOMED CT concept]
- Monge disease [ICD-11 More detail]
- Single gene defect (qualifier value) [SNOMED CT concept]
- monogenic disease [DO Concept]
Currated CISMeF NLP mapping
- Genetic Disorder [NCIt concept]
- Genetic disease [PASCAL descriptor]
- Genetic diseases [LOINC component]
- Genetic disorders [HPMULTI term]
- Genetic.Disorders [LOINC component]
- Hereditary disease [PASCAL descriptor]
- Hereditary disease (disorder) [SNOMED CT concept]
- Hereditary disorder [MedDRA Preferred Term]
- genetic disease [DO Concept]
- genetic disorder [Disease (Nov.)]
- genetic disorders [MedlinePlus Topic]
- genetic issue [Q-code]
- hereditary disease [Artificial nutrition thesaurus concept]
- hereditary disease, nos [SNOMED Notion]
- inborn genetic disorder [Disease (Nov.)]
DO Cross reference
- genetic disease [DO Concept]
MedlinePlus topic(s)
- genetic disorders [MedlinePlus Topic]
Metaterm(s)
- genetics [CISMeF Metaterm]
Record concept(s)
- Single-Gene defects [MeSH concept]
- genetic diseases, inborn [MeSH concept]
- hereditary diseases [MeSH concept]
Related MeSH Supplementary Concept(s)
- ACTH deficiency, isolated [MeSH Supplementary Concept]
- Alpha-2-Deficient collagen disease [MeSH Supplementary Concept]
- Corticosteroid-Binding globulin deficiency [MeSH Supplementary Concept]
- adrenocortical hypofunction, chronic primary congenital [MeSH Supplementary Concept]
- atrial standstill [MeSH Supplementary Concept]
- cerebral palsy, ataxic, autosomal recessive [MeSH Supplementary Concept]
- cirrhosis, familial [MeSH Supplementary Concept]
- complement factor I deficiency [MeSH Supplementary Concept]
- cryoglobulinemia, familial mixed [MeSH Supplementary Concept]
- epistaxis, hereditary [MeSH Supplementary Concept]
- hepatic fibrosis, congenital [MeSH Supplementary Concept]
- hereditary myopathy with early respiratory failure [MeSH Supplementary Concept]
- histiocytosis, familial lipochrome [MeSH Supplementary Concept]
- interstitial pneumonitis, desquamative, familial [MeSH Supplementary Concept]
- neutropenia, nonimmune chronic idiopathic, adult [MeSH Supplementary Concept]
- parotidomegaly, hereditary bilateral [MeSH Supplementary Concept]
- platelet glycoprotein IV deficiency [MeSH Supplementary Concept]
- prolactin deficiency, isolated [MeSH Supplementary Concept]
- pulmonary alveolar microlithiasis [MeSH Supplementary Concept]
- rh deficiency syndrome [MeSH Supplementary Concept]
See also
- genetics, medical [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- inborn genetic disorder [Disease (Nov.)]
Validated automatic mappings to NTBT
- Genetic disease (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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