II. Definitions
- Gene
- Core functional and physical unit of heredity, most forming a blueprint for Protein construction
- Each gene is encoded by a DNA segment, located in a specific position on a specific Chromosome
- Chromosome
- One of 23 pairs (46 total) of long DNA strands that are densely packaged into chromatin
- Each Chromosome houses 200-2000 genes (except the Y Chromosome which has only 50 genes)
- Allele
- Two Alleles (one from each parent) are inherited for each gene
- Homozygous
- For a given gene, the two inherited Alleles are the same
- Heterozygous
- For a given gene, the two inherited Alleles are different
- Genotype
- Genetic makeup of an individual (their collection of Alleles)
- Phenotype
- Genetic (Allele) expression resulting in observable characteristics or traits of an individual
- Genetic Polymorphism
- Natural variation in DNA, genes or Chromosomes
- Single Nucleotide polymorphism refers to gene variation in a single DNA base pair
- Autosomal Recessive Inheritance
- Conditions that manifest only if both Alleles of a gene mutation are inherited
- Autosomal Dominant Inheritance
- Conditions that manifests even if only one Allele of a gene mutation is inherited
III. Causes: Early presentation (examples)
IV. Causes: Delayed presentation (examples)
- Marfan Syndrome
- Noonan Syndrome
- BRCA
- Parkinson Disease
- Alzheimer Disease
- Charcot-Marie-Tooth Disease
- Huntington Chorea
V. Exam: Congenital malformations (examples)
- Inner Epicanthal Folds
- Altered interpupillary distance
- Asymmetric limb size
- Hypopigmentation (hair, skin)
- Coloboma
- Tooth anomalies (e.g. single Maxillary central incisor)
- Cafe Au Lait spots
- Digit anomalies
- Syndactyly (fused digits)
- Tapered digits
- Clinodactyly (curved digits)
- Arachnodactyly (long, slender fingers)
VI. Precautions
- Home Genetic Tests (e.g. 23andMe)
- Patients mail in a cheek swab sample for DNA analysis
- Tests only a subset of available Genetic Tests at a cost of several hundred dollars
- Risk of both False Positives and false reassurance when testing is incomplete
- Genetic Counseling is preferred for test interpretation and test selection based on patient history
- (2018) Presc Lett 25(7): 41
VII. Resources
- AAP Diagnosis of common Genetic Syndromes
- Genetics - NIH
- American College of Medical Genetics
VIII. References
Images: Related links to external sites (from Bing)
Related Studies
| Definition (NCI) | Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. |
| Definition (MSH) | Malformations of organs or body parts during development in utero. |
| Concepts | Congenital Abnormality (T019) |
| MSH | D000013 |
| ICD9 | 759.9, 740-759.99 |
| ICD10 | Q89.9 |
| SnomedCT | 157028001, 205999005, 205842001, 157033002, 157034008, 268359006, 276654001, 112635002, 66091009, 443341004, 21390004, 107656002, 276655000, 385297003 |
| English | Deformity, Abnormalities, Congenital, Abnormality, Congenital, Birth Defects, Congenital Abnormality, Congenital Defects, Defect, Birth, Defect, Congenital, Defects, Birth, Defects, Congenital, Deformities, CONGENITAL ANOMALY NOS, Anomaly congenital, malformations, deformity, Congenital anomaly NOS, Congenital anomalies, Congenital malformation, unspecified, Fetal development abnormality, Birth Defect, Congenital Defect, Congenital Anomaly, CONGEN ABNORM, CONGEN DEFECTS, ABNORM CONGEN, DEFECTS CONGEN, Congenital Abnormalities, malformation, congenital malformations, congenital malformations (diagnosis), fetal anomaly (diagnosis), fetal anomaly, Congenital Anomaly or Birth Defect, Congenital abnormality NOS, Anomaly anomaly congen, Birth defects, Developmental disturbance, Congenital defect, Congenital deformity NOS, Congenital Abnormalities [Disease/Finding], congenital abnormality, dysmorphism, congenital anomaly, congenital defect, abnormal development, congenital deformity, developmental defect, dysmorphisms, congenital abnormalities, dysgenesis, birth defect, birth defects, fetal malformation, congenital defects, congenital malformation, Abnormalities, Congenital anomaly NOS (disorder), Birth defect, Congenital Anomalies of Fetus, DEFECT/DEFORMITY, CONGENITAL, CONGENITAL DEFECT/DEFORMITY, DEFORMITY/DEFECT, CONGENITAL, SCONG, Congenital malformation (morphologic abnormality), Congenital abnormality, Congenital anomaly (disorder), Foetal developmental abnormality, Fetal developmental abnormality, Foetal malformation, Developmental malformation, Developmental anomaly, Developmental defect, Congenital anomaly, Congenital malformation, Congenital deformity, Dysgenesis, Fetal malformation, CM - Congenital malformation, Abnormal development, Congenital anomaly (morphologic abnormality), Congenital deformity (disorder), Congenital deformity (morphologic abnormality), Congenital malformation (disorder), Developmental abnormality, Developmental anomaly (morphologic abnormality), Malformation, Anomalous formation, congenital; deformity, deformity; congenital, anomaly, Abnormal development, NOS, Anomalous formation, NOS, Congenital abnormality, NOS, Congenital anomaly, NOS, Congenital defect, NOS, Congenital deformity, NOS, Congenital malformation, NOS, Developmental anomaly, NOS, Developmental defect, NOS, Developmental malformation, NOS, Dysgenesis, NOS, Malformation, NOS, Congenital Anatomic Abnormality, Congenital Anatomical Abnormality, Congenital Deformity, Congenital Malformation, CONGENITAL ANOMALIES, Congenital anomaly, unspecified, congenital anomalies |
| Italian | Anomalia congenita, Malformazione fetale, Anomalie congenite, non specificate, Malformazione congenita, Difetti alla nascita, Malformazione congenita NAS, Anomalia congenita NAS, Alterazione dello sviluppo, Deformità, Anomalie congenite, Difetti, Difetti congeniti |
| Dutch | congenitale anomalie anomalie, geboortedefecten, congenitale anomalie NAO, congenitale anomalie, niet-gespecificeerd, afwijking NAO, congenitaal, ontwikkelingsstoornis, congenitaal; misvorming, misvorming; congenitaal, Congenitale misvorming, niet gespecificeerd, congenitale anomalie, foetale misvorming |
| French | Anomalie congén, Anomalie congénitale SAI, Trouble développemental, Anomalie congénitale non précisée, Anomalie morphologique congénitale, Anomalies morphologiques congénitales, Malformation, Anomalies congénitales, Anomalie congénitale, ANOMALIE CONGENITALE SAI, Malformation foetale, Malformations, Malformations congénitales, Difformités congénitales |
| German | kongenitale Anomalie, unspezifisch, Geburtsfehler, Anomalie, kongenital, kongenitale Anomalie NNB, Entwicklungsstoerung, ANGEBORENE MISSBILDUNG NNB, Angeborene Fehlbildung, nicht naeher bezeichnet, fetale Missbildung, kongenitale Anomalie, Fehlbildungen, angeborene, Kongenitale Fehlbildungen, Angeborene Fehlbildungen, Abnormalitäten, Abnormitäten, Deformitäten, Geburtsschäden |
| Portuguese | Perturbação de desevolvimento, Anomalia congénita NE, Defeitos congénitos, Anormalidades Congênitas, ANOMALIA CONGENITA NE, Anormalidade Congênita, Anomalia Congênita, Anomalias Congênitas, Malformações, Anomalia congénita, Malformação fetal, Defeitos Congênitos, Deformidades |
| Spanish | Anormalidad congénita NEOM, Anomalía congénita no especificada, Anomalía congénita NEOM, Defectos de nacimiento, Alteración del desarrollo, Anomalías Congénitas, ANOMALIA CONGENITA SE, anomalía congénita (trastorno), anomalía congénita, SAI, anomalía congénita, SAI (trastorno), Congenital anomaly NOS, Anomalía Congénita, Malformaciones, anomalía congénita (anomalía morfológica), anomalía congénita, anormalidad congénita, defecto congénito, deformidad congénita (anomalía morfológica), deformidad congénita (trastorno), deformidad congénita, deformidad del desarrollo (anomalía morfológica), deformidad del desarrollo, desarrollo anormal, disgenesia, malformación congénita (anomalía morfológica), malformación congénita (trastorno), malformación congénita, malformación fetal, Anomalía congénita, Malformación fetal, Defectos Congénitos, Deformidades |
| Japanese | 発育障害, 胎児奇形, 先天性欠損, 先天異常ＮＯＳ, 先天異常, ｾﾝﾃﾝｲｼﾞｮｳNOS, ｾﾝﾃﾝｾｲｹｯｿﾝ, ﾀｲｼﾞｷｹｲ, ﾊﾂｲｸｼｮｳｶﾞｲ, ｾﾝﾃﾝｲｼﾞｮｳ, 奇形, 先天奇形, 先天性欠損(奇形), 形成異常, 先天性異常(奇形) |
| Czech | kongenitální defekty, deformity, Vrozená anomálie, blíže neurčená, Odlišná anomálie vrozená, Vrozená vada, Fetální malformace, Vrozená anomálie, Vrozená abnormalita NOS, Vrozená anomálie NOS, Vývojová porucha, Porodní defekty, vrozené abnormality, vrozené vady |
| Finnish | Synnynnäiset epämuodostumat |
| Russian | АНОМАЛИИ ВРОЖДЕННЫЕ, ANOMALII VROZHDENNYE, VROZHDENNYE POROKI, POROKI RAZVITIIA, ВРОЖДЕННЫЕ АНОМАЛИИ, VROZHDENNYE ANOMALII, ВРОЖДЕННЫЕ ПОРОКИ, ПОРОКИ РАЗВИТИЯ |
| Swedish | Medfödda missbildningar |
| Korean | 상세불명의 선천 기형 |
| Croatian | PRIROĐENE NEPRAVILNOSTI, PRIROĐENE MANE, PRIROĐENE ANOMALIJE |
| Latvian | Not Translated[Congenital Abnormalities] |
| Polish | Defekty wrodzone, Wady wrodzone, Nieprawidłowości wrodzone, Rozwojowe wady wrodzone |
| Hungarian | Magzati malformatio, Veleszületett anomalia k.m.n., Congenitalis anomalia, nem meghatározott, Fejlődési zavar, Veleszületett rendellenesség k.m.n., Születési hibák, Congenitalis anomalia, Congenitális rendellenesség, Veleszületett anomalia |
| Norwegian | Medfødte misdannelser, Kongenitale misdannelser, Fødselsdefekter, Deformiteter |
Ontology: Alleles (C0002085)
| Definition (NCI_NCI-GLOSS) | One of two or more DNA sequences occurring at a particular gene locus. Typically one allele (normal DNA sequence) is common, and other alleles (mutations) are rare. |
| Definition (NCI) | Mutually exclusive alternative forms of the same gene occupying the same locus on homologous chromosomes, differing in nucleotide sequence and governing the same biochemical and developmental process. |
| Definition (CSP) | one of a series of possible alternative forms of a given gene, differing in DNA sequence, and affecting the functioning of a single product. |
| Definition (MSH) | Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. |
| Concepts | Gene or Genome (T028) |
| MSH | D000483 |
| SnomedCT | 9109004 |
| English | Alleles, Allelomorph, Allelomorphs, allelic gene, allele, alleles, Genetic alleles, Genetic alleles (finding), Allele |
| Swedish | Alleler |
| Czech | alely |
| Finnish | Alleelit |
| Italian | Allelomorfi, Alleli |
| Russian | ALLELI, АЛЛЕЛИ |
| French | Gènes allélomorphes, Allèles |
| Croatian | ALELI, ALELOMORFI |
| Polish | Allele |
| Japanese | 対立遺伝子, アリル(遺伝子), 対立因子(遺伝学), 対立因子, 対立形質(遺伝学), 対立形質, 遺伝単位, 遺伝子-対立, アレル(遺伝子) |
| Spanish | alelomorfos, alelos genéticos (hallazgo), alelos genéticos, Alelomorfos, Alelos |
| German | Allele, Allelomorphe |
| Dutch | Allel, Allelomorfen |
| Portuguese | Alelomorfos, Alelos |
Ontology: Chromosomes (C0008633)
| Definition (FMA) | Organelle part which consists of nucleotides arranged linearly into three regions, DNA replication origin, centromere and telomere. Examples: nuclear chromosome, sex chromosome. |
| Definition (NCI) | One of the bodies in the cell nucleus that is the bearer of genes, has the form of a delicate chromatin filament during interphase, contracts to form a compact cylinder segmented into two arms by the centromere during metaphase and anaphase stages of cell division, and is capable of reproducing its physical and chemical structure through successive cell divisions. |
| Definition (NCI_NCI-GLOSS) | Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. |
| Definition (MSH) | In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) |
| Definition (CSP) | in a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure containing DNA which carries the genetic information essential to the cell; the bacterial chromosome is a closed circle of double stranded DNA associated with the cell membrane; nuclear chromosomes are associated with RNA, histones and non histone proteins; the normal number of chromosomes in human somatic cells is 46. |
| Definition (GO) | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. [ISBN:0198547684] |
| Concepts | Cell Component (T026) |
| MSH | D002875 |
| SnomedCT | 91272006 |
| LNC | LP20948-3, LP32750-9, MTHU047638 |
| Swedish | Kromosomer |
| English | Chromosomal, chromosomes, chromosome, Chromosome, Chromosome (cell structure), Chromosome, NOS, Chromosome (body structure), Chromosomes |
| Czech | chromozómy |
| Finnish | Kromosomit |
| Russian | KHROMOSOMY, ХРОМОСОМЫ |
| Croatian | KROMOSOMI |
| Latvian | Hromosomas |
| Polish | Chromosomy |
| Norwegian | Kromosomer |
| Portuguese | Cromossomas, Cromossomos |
| Spanish | cromosoma (estructura celular), cromosoma (estructura corporal), cromosoma, Cromosomas |
| French | Chromosomes |
| German | Chromosomen |
| Italian | Cromosomi |
| Dutch | Chromosomen, Chromosoom |
Ontology: Genes (C0017337)
| Definition (MSH) | A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. |
| Definition (HL7V3.0) | <p><b>Description:</b>A DNA segment that contributes to phenotype/function. In the absence of demonstrated function a gene may be characterized by sequence, transcription or homology</p> |
| Definition (NCI) | A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function. |
| Definition (NCI_NCI-GLOSS) | The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. |
| Definition (CSP) | segment of the genome that codes for a functional product. |
| Concepts | Gene or Genome (T028) |
| MSH | D005796 |
| SnomedCT | 67271001 |
| HL7 | GENE |
| LNC | LP32747-5 |
| English | Genes, genes, Gene (substance), gene, Gene, NOS, Gene |
| Swedish | Gener |
| Czech | geny, gen |
| Finnish | Geenit |
| Italian | Gene, Geni |
| Russian | TSISTRON, GENY, GENY STRUKTURNYE, ГЕНЫ, ГЕНЫ СТРУКТУРНЫЕ, ЦИСТРОН |
| Japanese | 分断された遺伝子, 遺伝子, 遺伝子-分断, 分断遺伝子, 構造遺伝子, 遺伝子-構造, 遺伝子-分化, 分化遺伝子, シストロン |
| Croatian | GENI |
| Polish | Geny |
| Norwegian | Not Translated[Genes] |
| Spanish | gen (sustancia), gen, Genes |
| French | Gènes, Gène |
| German | Gene |
| Dutch | Gen, Genen |
| Portuguese | Genes |
Ontology: Genetic Counseling (C0017382)
| Definition (MEDLINEPLUS) |
Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A genetic counselor meets with you to discuss genetic risks. The counseling may be for yourself or a family member. Or you may get it when you are planning or expecting a baby. You may follow up with genetic testing. There are many reasons to seek genetic counseling. You may consider it if you
Genetics Home Reference |
| Definition (NCI_NCI-GLOSS) | A communication process between a specially trained health professional and a person concerned about the genetic risk of disease. The person's family and personal medical history may be discussed, and counseling may lead to genetic testing. |
| Definition (NCI) | The process whereby an expert in hereditary disorders provides information about risk and clinical burden of a disorder or disorders to patients or relatives in families with genetic disorders as an aid to making informed and responsible decisions about marriage, children, early diagnosis, and handling disability. |
| Definition (MSH) | An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. |
| Definition (PSY) | Presentation and discussion, usually with prospective parents, of factors involved in potential inheritance of disorders. |
| Definition (CSP) | educational process that provides information and advice to individuals or families about a genetic condition that may affect them; the purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs; psychosocial support is usually offered. |
| Definition (NIC) | Use of an interactive helping process focusing on assisting an individual, family, or group, manifesting or at risk for developing or transmitting a birth defect or genetic condition, to cope |
| Definition (ALT) | Providing a client/patient with education and/or information regarding genetics to prevent and/or minimize risk of his or her passing a genetic disorder(s). Service is billed in 15-minute increments. |
| Concepts | Therapeutic or Preventive Procedure (T061) |
| MSH | D005817 |
| SnomedCT | 148239004, 79841006 |
| English | Counseling, Genetic, Genetic Counseling, GENET COUNSELING, COUNSELING GENET, genetic counselling, Genetic Counselling, Genetic counselling (regime/therapy), genetic counseling (treatment), Genetic counseling, Genetic counselling, genetic counseling, Genetic counseling individual each 15 minutes, gntk cnslng ndvdl ea.15min, Counseling;genetic, Counselling;genetic, Genetic counseling (procedure), Genetic counseling (regime/therapy) |
| Spanish | asesoramiento genético (procedimiento), asesoramiento genético (régimen/tratamiento), Asesoramiento Genético, Asesoría Genética, Consejo Genético, asesoramiento genético, Consejo genético |
| Italian | Consigli e test di genetica, Counseling genetico |
| Swedish | Genetisk rådgivning |
| Japanese | ｲﾃﾞﾝｿｳﾀﾞﾝ, 遺伝カウンセリング, 遺伝相談, カウンセリング-遺伝 |
| Czech | genetické poradenství, Genetické poradenství |
| Finnish | Perinnöllisyysneuvonta |
| Russian | GENETICHESKOE KONSUL'TIROVANIE, ГЕНЕТИЧЕСКОЕ КОНСУЛЬТИРОВАНИЕ |
| Croatian | GENETSKO SAVJETOVANJE |
| Polish | Poradnictwo genetyczne, Prenatalne poradnictwo genetyczne |
| Hungarian | Genetikai tanácsadás |
| Norwegian | Genetisk veiledning, Genetisk rådgivning |
| Portuguese | Aconselhamento genético, Aconselhamento Genético |
| Dutch | genetic counselling / erfelijkheidsvoorlichting, Erfelijkheidsvoorlichting, Genetic counselling, Voorlichting, erfelijkheids- |
| German | Genberatung, Genetische Beratung |
| French | Conseil génétique |
Ontology: genetic aspects (C0017399)
| Definition (MSH) | Used for mechanisms of heredity and the genetics of organisms, for the genetic basis of normal and pathologic states, and for the genetic aspects of endogenous chemicals. It includes biochemical and molecular influence on genetic material. |
| Concepts | Biologic Function (T038) |
| MSH | Q000235 |
| ICD9 | V83-V84.99 |
| English | GENETICS, GENET, GE, genetic aspects, genetics |
Ontology: Genotype (C0017431)
| Definition (MSH) | The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. |
| Definition (NCI_NCI-GLOSS) | At its broadest level, genotype includes the entire genetic constitution of an individual. It is often applied more narrowly to the set of alleles present at one or more specific loci. |
| Definition (NCI) | The genetic constitution of an organism or cell, as distinct from its expressed features or phenotype. |
| Definition (CSP) | entire genetic constitution of an individual; the alleles present at one or more specific loci. |
| Concepts | Organism Attribute (T032) |
| MSH | D005838 |
| SnomedCT | 168488007, 34345003, 145681002 |
| LNC | LP29254-7 |
| Swedish | Genotyp |
| English | Genotypic, genotypes, genotype, Genotype (procedure), Genotype (substance), Genotype (finding), Genotype, Genotypes |
| Czech | genotyp |
| Finnish | Genotyyppi |
| Russian | GENOTIP, ГЕНОТИП |
| Croatian | GENOTIP |
| Polish | Genotyp |
| Norwegian | Not Translated[Genotype] |
| Spanish | genotipo, genotipo (sustancia), Genotipos, Genotipo |
| Portuguese | Genótipos, Genótipo |
| French | Génotype |
| German | Genotyp |
| Italian | Genotipo |
| Dutch | Genotype |
Ontology: Hereditary Diseases (C0019247)
| Definition (MEDLINEPLUS) |
Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime. There are three types of genetic disorders:
Genetic tests on blood and other tissue can identify genetic disorders. NIH: National Library of Medicine |
| Definition (NCI) | Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. |
| Definition (MSH) | Diseases caused by genetic mutations that are inherited from a parent's genome. |
| Definition (CSP) | general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D030342 |
| SnomedCT | 264530000, 32895009 |
| English | Disease, Hereditary, Diseases, Hereditary, Hereditary Disease, genetic disorder, HEREDITARY DIS, hereditary disorder, heritable disorder, Hereditary Diseases, Hereditary disorder NOS, genetics disease, hereditary disorders, hereditary disease, inherited disease, genetic disorders, diseases hereditary, genetic disease, hereditary diseases, Inherited Disease, Genetic Disorders, Hereditary disorder, Hereditary disease, Genetic disease, Hereditary disease (disorder), Inherited disease, genetic condition, Genetic disease, NOS, Hereditary disease, NOS, Inherited disease, NOS, Hereditary Disorders, Genetic Disorder, Genetic Condition, Molecular Disease |
| Italian | Disturbo ereditario, Disturbo ereditario NAS, Malattie ededitarie |
| Dutch | erfelijke aandoening NAO, erfelijke aandoening, Erfelijke ziekten |
| French | Anomalie héréditaire SAI, Maladies héréditaires, Anomalie héréditaire, Maladie héréditaire |
| German | Erbkrankheit NNB, Erbkrankheiten, Erbkrankheit, Hereditäre Krankheiten |
| Portuguese | Afecção hereditária NE, Doenças Hereditárias, Afecção hereditária |
| Spanish | Trastorno hereditario NEOM, Enfermedades Hereditarias, enfermedad genética, enfermedad heredada, enfermedad hereditaria (trastorno), enfermedad hereditaria, Trastorno hereditario |
| Japanese | 遺伝性障害, 遺伝性障害ＮＯＳ, ｲﾃﾞﾝｾｲｼｮｳｶﾞｲNOS, ｲﾃﾞﾝｾｲｼｮｳｶﾞｲ |
| Czech | dědičné nemoci, Dědičná porucha, Hereditární onemocnění NOS |
| Croatian | NASLJEDNE BOLESTI |
| Hungarian | Öröklött betegség k.m.n., Öröklött betegség |
| Norwegian | Hereditære sykdommer, Arvelige sykdommer |
Ontology: Heterozygote (C0019425)
| Definition (NCI) | Having two different allelic forms of a gene, one inherited from each parent, on each of the two homologous chromosomes. |
| Definition (NCI_NCI-GLOSS) | Occurs when the two alleles at a particular gene locus are different. A heterozygous genotype may include one normal allele and one mutation, or two different mutations. The latter is called a compound heterozygote. |
| Definition (MSH) | An individual having different alleles at one or more loci regarding a specific character. |
| Definition (CSP) | having different alleles at one or more loci in homologous chromosome segments. |
| Concepts | Organism Attribute (T032) |
| MSH | D006579 |
| SnomedCT | 14556007 |
| English | Heterozygote, Heterozygotes, Heterozygous, Heterozygosity, heterozygote, heterozygotes, heterozygous genotype, Heterozygote (qualifier value) |
| Swedish | Heterozygot |
| Czech | heterozygot |
| Finnish | Heterotsygootti |
| Russian | GENETICHESKIE NOSITELI, NOSITELI GENETICHESKIE, GETEROZIGOTA, ГЕНЕТИЧЕСКИЕ НОСИТЕЛИ, ГЕТЕРОЗИГОТА, НОСИТЕЛИ ГЕНЕТИЧЕСКИЕ |
| Japanese | 接合体-異型, 遺伝キャリア, 接合体-ヘテロ, 接合体-異種, 異種接合体, キャリア-遺伝子, ヘテロ接合体, 異型接合体 |
| Polish | Heterozygota |
| Croatian | Heterozigot |
| Spanish | heterocigoto (calificador), heterocigoto, Heterocigoto |
| French | Hétérozygote |
| German | Heterozygot |
| Italian | Eterozigoti |
| Dutch | Heterozygoot |
| Portuguese | Heterozigoto |
Ontology: Homozygote (C0019904)
| Definition (NCI) | Having two identical allelic forms of a gene, one inherited from each parent, on each of the two homologous chromosomes. |
| Definition (NCI_NCI-GLOSS) | Occurs when both alleles at a particular gene locus are the same. A person may be homozygous for the normal allele or for a mutation. |
| Definition (MSH) | An individual in which both alleles at a given locus are identical. |
| Definition (CSP) | an individual or cell characterized by having identical alleles at one or more loci in homologous chromosome segments. |
| Concepts | Organism Attribute (T032) |
| MSH | D006720 |
| SnomedCT | 22061001 |
| English | Homozygote, Homozygotes, Homozygosity, Homozygous, homozygote, homozygous genotype, Homozygote (finding) |
| Swedish | Homozygot |
| Czech | homozygot |
| Finnish | Homotsygootti |
| Russian | GOMOZIGOTA, ГОМОЗИГОТА |
| Croatian | HOMOZIGOT |
| Polish | Homozygota |
| Spanish | homocigoto (hallazgo), homocigoto, Homocigoto |
| French | Homozygote |
| German | Homozygot |
| Italian | Omozigote |
| Dutch | Homozygoot |
| Portuguese | Homozigoto |
Ontology: Phenotype (C0031437)
| Definition (HL7V3.0) | <p><b>Description:</b>A genomic phenomenon that is expressed externally in the organism.</p> |
| Definition (NCI) | The assemblage of traits or outward appearance of an individual. It is the product of interactions between genes and between genes and the environment. |
| Definition (NCI_NCI-GLOSS) | The observable characteristics in an individual resulting from the expression of genes; the clinical presentation of an individual with a particular genotype. |
| Definition (MSH) | The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. |
| Definition (CSP) | the entire physical, biochemical, and physiological makeup of an individual as determined both genetically and environmentally; also, any one or any group of such traits. |
| Concepts | Organism Attribute (T032) |
| MSH | D010641 |
| SnomedCT | 8116006, 365831004, 145678007, 168485005 |
| HL7 | PHN |
| Swedish | Fenotyp |
| Czech | fenotyp |
| Finnish | Fenotyyppi |
| Russian | FENOTIP, KILLERNYI FENOTIP, КИЛЛЕРНЫЙ ФЕНОТИП, ФЕНОТИП |
| English | Phenotype finding, phenotype, phenotypes, Finding of phenotype (finding), Phenotype - finding, Phenotype (finding), Phenotypic expression, Phenotype finding (finding), Phenotype, Phenotypes |
| Croatian | FENOTIP |
| Polish | Fenotyp |
| Norwegian | Not Translated[Phenotype] |
| Spanish | fenotipo, expresión fenotípica, fenotipo (hallazgo), Fenotipo |
| French | Phénotype |
| German | Phänotyp |
| Italian | Fenotipo |
| Dutch | Fenotype |
| Portuguese | Fenótipo |
Ontology: Autosomal recessive inheritance (C0441748)
| Definition (NCI_NCI-GLOSS) | Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). |
| Concepts | Intellectual Product (T170) |
| SnomedCT | 258211005 |
| English | Autosom recessive inheritance, autosomal inheritance recessive, autosomal recessive, autosomal recessive inheritance, recessive autosomal inheritance, autosomal recessives, Autosomal Recessive Inheritance, Autosomal recessive, Autosomal recessive inheritance, Autosomal recessive inheritance (qualifier value) |
| Spanish | herencia autosómica recesiva (calificador), herencia autosómica recesiva |
Ontology: Autosomal dominant inheritance (C0443147)
| Definition (NCI_NCI-GLOSS) | Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). |
| Concepts | Intellectual Product (T170) |
| SnomedCT | 263681008 |
| English | Autosomal dominant inheritance, autosomal dominant, autosomal dominant inheritance, Autosomal Dominant Inheritance, Autosomal dominant, AD - Autosomal dominant, Autosomal dominant inheritance (qualifier value) |
| Spanish | autosómico dominante, herencia autosómica dominante (calificador), herencia autosómica dominante |
Ontology: Genetic syndrome (C0567439)
| Concepts | Disease or Syndrome (T047) |
| SnomedCT | 290028006 |
| English | genetic syndromes, genetic disorder syndrome, genetics syndrome, genetic syndrome, syndrome genetic, disorders genetic syndrome, syndrome genetic disorder, genetics syndromes, Genetic syndrome, Genetic syndrome (disorder) |
| Spanish | síndrome genético (trastorno), síndrome genético |
Ontology: gene polymorphism (C0678951)
| Concepts | Genetic Function (T045) |
| English | gene polymorphism, gene polymorphisms |
Ontology: Genetic screening method (C0679560)
| Definition (MSH) | Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. |
| Definition (MEDLINEPLUS) |
Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include
People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing. NIH: National Human Genome Research Institute |
| Definition (NCI_NCI-GLOSS) | Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder. |
| Definition (NCI) | The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder. |
| Definition (PSY) | Screening for presence or predisposition to a particular trait or disease that may be passed on to one's offspring. |
| Concepts | Laboratory Procedure (T059) |
| MSH | D005820 |
| SnomedCT | 405824009 |
| CPT | 88274, 88275 |
| English | genetic testing [select method/result first, then analyte], genetic screening method, genetic testing, Testing, Genetic, Genetic Testing, Genetic screening method, Genetic Examination, genetic tests, genetics test, testing genetic, genetics testing, genetic screening test, Genetic testing, genetic testing (procedure), Genetic Test, genetic analysis, Genetic test (procedure), Genetic test, genetic test, Test;genetic |
| French | Analyse génétique |
| German | Genetischer Test, Gentest, Genetische Testung |
| Italian | Testing genetico |
| Portuguese | Testes Genéticos |
| Spanish | Pruebas Genéticas, Tamizado Genético, Tamización Genética, Tamizaje Genético, Prospección Genética, prueba genética (procedimiento), prueba genética |
| Russian | ГЕНЕТИЧЕСКИЙ СКРИНИНГ, GENETICHESKOE TESTIROVANIE, GENETICHESKII SKRINING, ГЕНЕТИЧЕСКОЕ ТЕСТИРОВАНИЕ |
| Czech | genetické vyšetření, genetické testování |
| Swedish | Gentester |
| Polish | Skrining genetyczny, Badania predyspozycji genetycznych, Testy genetyczne, Badania genetyczne |
| Japanese | 遺伝学的スクリーニング |
| Norwegian | Gentesting |
