serw-MX  [xml]  

 DeCS Categories

C14 Cardiovascular Diseases .
C14.240 Cardiovascular Abnormalities .
C14.240.400 Heart Defects, Congenital .
C14.240.400.172 Barth Syndrome .
C14.280 Heart Diseases .
C14.280.400 Heart Defects, Congenital .
C14.280.400.172 Barth Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.121 Barth Syndrome .
C16.131.077.137 Bloom Syndrome .
C16.131.077.208 Branchio-Oto-Renal Syndrome .
C16.131.077.899 Trichothiodystrophy Syndromes .
C16.131.240 Cardiovascular Abnormalities .
C16.131.240.400 Heart Defects, Congenital .
C16.131.240.400.172 Barth Syndrome .
C16.131.260 Chromosome Disorders .
C16.131.260.090 Branchio-Oto-Renal Syndrome .
C16.131.831 Skin Abnormalities .
C16.131.831.874 Trichothiodystrophy Syndromes .
C16.320 Genetic Diseases, Inborn .
C16.320.180 Chromosome Disorders .
C16.320.180.090 Branchio-Oto-Renal Syndrome .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.068 Barth Syndrome .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.224 Barth Syndrome .
C16.320.850 Skin Diseases, Genetic .
C16.320.850.895 Trichothiodystrophy Syndromes .
C17 Skin and Connective Tissue Diseases .
C17.800 Skin Diseases .
C17.800.804 Skin Abnormalities .
C17.800.804.874 Trichothiodystrophy Syndromes .
C17.800.827 Skin Diseases, Genetic .
C17.800.827.895 Trichothiodystrophy Syndromes .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.284 DNA Repair-Deficiency Disorders .
C18.452.284.100 Bloom Syndrome .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.224 Barth Syndrome .
C23 Pathological Conditions, Signs and Symptoms .
C23.550 Pathologic Processes .
C23.550.288 Disease .
C23.550.288.500 Syndrome .
F03 Mental Disorders .
F03.875 Somatoform Disorders .
 Synonyms & Historicals
Somatoform Disorders .
Medically Unexplained Syndrome .
Medically Unexplained Syndromes .
Disorder, Somatoform .
Disorders, Somatization .
Disorders, Somatoform .
Somatization Disorders .
Somatoform Disorder .
Syndrome, Briquet .
Syndrome, Medically Unexplained .
Syndromes, Medically Unexplained .
Unexplained Syndrome, Medically .
Unexplained Syndromes, Medically .
Diseases of the Spirit .
Spiritual Disease .
Spiritual Diseases .
Briquet Syndrome .
Pain Disorder .
Somatization Disorder .
Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by another medical condition, by the direct effects of a substance, or by another mental disorder. The MEDICALLY UNEXPLAINED SYMPTOMS must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to FACTITIOUS DISORDERS and MALINGERING, the physical symptoms are not under voluntary control. (APA, DSM-V) .
Syndrome .
Symptom Cluster .
Cluster, Symptom .
Clusters, Symptom .
Symptom Clusters .
Syndromes .
A characteristic symptom complex. .
Branchio-Oto-Renal Syndrome .
BOF Syndrome .
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging .
Branchio-Otorenal Syndrome .
Branchiooculofacial Syndrome .
Branchiootorenal Dysplasia .
Branchiootorenal Syndrome 1 .
Branchiootorenal Syndrome 2 .
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome .
Lee Root Fenske Syndrome .
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome .
Melnick-Fraser Syndrome .
Branchio Oculo Facial Syndrome .
Branchio Oto Renal Syndrome .
Dysplasia, Branchiootorenal .
Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome .
Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome .
Melnick Fraser Syndrome .
Syndrome, BOF .
Syndrome, BOR .
Syndrome, Branchio-Oculo-Facial .
Syndrome, Branchio-Oto-Renal .
Syndrome, Branchiooculofacial .
Syndrome, Melnick-Fraser .
Branchio-Oculo-Facial Syndrome .
Branchio-Otorenal Dysplasia .
BOR Syndrome .
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) .
Bloom Syndrome .
Bloom's Syndrome .
Congenital Telangiectatic Erythema .
Bloom Torre Machacek Syndrome .
Syndrome, Bloom .
Syndrome, Bloom-Torre-Machacek .
Bloom-Torre-Machacek Syndrome .
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. .
Barth Syndrome .
3-Methylglutaconic Aciduria, Type II .
3-Methylglutaconicaciduria Type 2 .
3-Methylglutaconicaciduria Type II .
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria .
MGA Type 2 .
MGA Type II .
3 Methylglutaconic Aciduria, Type II .
3 Methylglutaconicaciduria Type 2 .
3-Methylglutaconicaciduria Type 2s .
3-Methylglutaconicaciduria Type IIs .
MGA Type 2s .
MGA Type IIs .
Syndrome, Barth .
Type 2, 3-Methylglutaconicaciduria .
Type 2, MGA .
Type 2s, MGA .
Type II, MGA .
Type IIs, MGA .
MGA type II .
3-methylglutaconicaciduria type 2 .
3-methylglutaconicaciduria type II .
Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist. .
Trichothiodystrophy Syndromes .
Amish Brittle Hair Brain Syndrome .
Amish Brittle Hair Syndrome .
BIDS Syndrome .
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome .
Hair-Brain Syndrome .
IBIDS Syndrome .
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation .
Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature .
PIBIDS Syndrome .
Photosensitive Trichothiodystrophy .
Tay Syndrome .
Trichothiodystrophy .
Trichothiodystrophy with Congenital Ichtyosis .
Trichothiodystrophy, Nonphotosensitive 1 .
Trichothiodystrophy, Photosensitive .
BIDS Syndromes .
Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome .
Hair Brain Syndrome .
Hair-Brain Syndromes .
IBIDS Syndromes .
PIBIDS Syndromes .
Photosensitive Trichothiodystrophies .
Trichothiodystrophies .
Trichothiodystrophies, Nonphotosensitive 1 .
Trichothiodystrophies, Photosensitive .
Trichothiodystrophy Syndrome .
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. .