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Rothmund-Thomson Syndrome
MeSH HeadingRothmund-Thomson Syndrome
Tree NumberC16.131.831.775
Tree NumberC16.320.850.765
Tree NumberC16.614.760
Tree NumberC17.800.804.775
Tree NumberC17.800.827.775
Tree NumberC18.452.284.760
Scope NoteAn autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Entry TermPoikiloderma Atrophicans and Cataract
Entry TermPoikiloderma Congenitale
Entry TermPoikiloderma of Rothmund-Thomson
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI
History Note2006 (1964)
Date of Entry19990101
Unique IDD011038


MeSH Tree Structures

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Congenital Abnormalities [C16.131]
      Skin Abnormalities [C16.131.831]
Acrodermatitis [C16.131.831.066]
Carney Complex [C16.131.831.108]
Dyskeratosis Congenita [C16.131.831.150]
Ectodermal Dysplasia [C16.131.831.350]  +
Ehlers-Danlos Syndrome [C16.131.831.428]
Epidermolysis Bullosa [C16.131.831.493]  +
Ichthyosis [C16.131.831.512]  +
Incontinentia Pigmenti [C16.131.831.580]
Port-Wine Stain [C16.131.831.675]
Prolidase Deficiency [C16.131.831.720]
Pseudoxanthoma Elasticum [C16.131.831.766]
Arrow pointing to current tree nodeRothmund-Thomson Syndrome [C16.131.831.775]
Sclerema Neonatorum [C16.131.831.812]
Trichothiodystrophy Syndromes [C16.131.831.874]
Xeroderma Pigmentosum [C16.131.831.936]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Skin Diseases, Genetic [C16.320.850]
Albinism [C16.320.850.080]  +
Cutis Laxa [C16.320.850.180]
Darier Disease [C16.320.850.190]
Dermatitis, Atopic [C16.320.850.210]
Dyskeratosis Congenita [C16.320.850.235]
Ectodermal Dysplasia [C16.320.850.250]  +
Ehlers-Danlos Syndrome [C16.320.850.260]
Epidermolysis Bullosa [C16.320.850.275]  +
Erythrokeratodermia Variabilis [C16.320.850.337]
Hyalinosis, Systemic [C16.320.850.368]
Ichthyosiform Erythroderma, Congenital [C16.320.850.400]  +
Ichthyosis Bullosa of Siemens [C16.320.850.402]
Ichthyosis Vulgaris [C16.320.850.405]
Ichthyosis, X-Linked [C16.320.850.408]
Incontinentia Pigmenti [C16.320.850.420]
Keratoderma, Palmoplantar [C16.320.850.475]  +
Leukokeratosis, Hereditary Mucosal [C16.320.850.542]
Lipoid Proteinosis of Urbach and Wiethe [C16.320.850.595]
Monilethrix [C16.320.850.647]
Netherton Syndrome [C16.320.850.673]
Pemphigus, Benign Familial [C16.320.850.700]
Porokeratosis [C16.320.850.730]
Porphyria, Erythropoietic [C16.320.850.738]
Porphyrias, Hepatic [C16.320.850.742]  +
Prolidase Deficiency [C16.320.850.746]
Pseudoxanthoma Elasticum [C16.320.850.750]
Arrow pointing to current tree nodeRothmund-Thomson Syndrome [C16.320.850.765]
Sjogren-Larsson Syndrome [C16.320.850.820]
Trichothiodystrophy Syndromes [C16.320.850.895]
Xeroderma Pigmentosum [C16.320.850.970]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Infant, Newborn, Diseases [C16.614]
Amniotic Band Syndrome [C16.614.042]
Anemia, Neonatal [C16.614.053]  +
Asphyxia Neonatorum [C16.614.092]
Birth Injuries [C16.614.131]  +
Cystic Fibrosis [C16.614.213]
Epilepsy, Benign Neonatal [C16.614.258]
Erythroblastosis, Fetal [C16.614.304]  +
Hernia, Umbilical [C16.614.378]
Hydrophthalmos [C16.614.438]
Hyperbilirubinemia, Neonatal [C16.614.451]  +
Hyperostosis, Cortical, Congenital [C16.614.465]
Ichthyosis [C16.614.492]  +
Infant, Premature, Diseases [C16.614.521]  +
Meconium Aspiration Syndrome [C16.614.580]
Mobius Syndrome [C16.614.595]
Neonatal Abstinence Syndrome [C16.614.610]
Nystagmus, Congenital [C16.614.643]
Ophthalmia Neonatorum [C16.614.677]
Persistent Fetal Circulation Syndrome [C16.614.694]
Persistent Hyperinsulinemia Hypoglycemia of Infancy [C16.614.716]
Arrow pointing to current tree nodeRothmund-Thomson Syndrome [C16.614.760]
Sclerema Neonatorum [C16.614.810]
Severe Combined Immunodeficiency [C16.614.815]  +
Syphilis, Congenital [C16.614.868]
Thanatophoric Dysplasia [C16.614.890]
Thrombocytopenia, Neonatal Alloimmune [C16.614.899]
Toxoplasmosis, Congenital [C16.614.909]
Vitamin K Deficiency Bleeding [C16.614.940]
Wolman Disease [C16.614.947]

 
Skin and Connective Tissue Diseases [C17]
   Skin Diseases [C17.800]
      Skin Abnormalities [C17.800.804]
Acrodermatitis [C17.800.804.066]
Anetoderma [C17.800.804.108]
Dyskeratosis Congenita [C17.800.804.150]
Ectodermal Dysplasia [C17.800.804.350]  +
Ehlers-Danlos Syndrome [C17.800.804.428]
Epidermolysis Bullosa [C17.800.804.493]  +
Ichthyosis [C17.800.804.512]  +
Incontinentia Pigmenti [C17.800.804.580]
Port-Wine Stain [C17.800.804.675]
Pseudoxanthoma Elasticum [C17.800.804.766]
Arrow pointing to current tree nodeRothmund-Thomson Syndrome [C17.800.804.775]
Sclerema Neonatorum [C17.800.804.812]
Trichothiodystrophy Syndromes [C17.800.804.874]
Xeroderma Pigmentosum [C17.800.804.936]

 
Skin and Connective Tissue Diseases [C17]
   Skin Diseases [C17.800]
      Skin Diseases, Genetic [C17.800.827]
Albinism [C17.800.827.080]  +
Cutis Laxa [C17.800.827.180]
Darier Disease [C17.800.827.190]
Dermatitis, Atopic [C17.800.827.210]
Dyskeratosis Congenita [C17.800.827.235]
Ectodermal Dysplasia [C17.800.827.250]  +
Ehlers-Danlos Syndrome [C17.800.827.260]
Epidermolysis Bullosa [C17.800.827.275]  +
Erythrokeratodermia Variabilis [C17.800.827.337]
Hereditary Autoinflammatory Diseases [C17.800.827.368]  +
Ichthyosiform Erythroderma, Congenital [C17.800.827.400]  +
Ichthyosis Bullosa of Siemens [C17.800.827.403]
Ichthyosis Vulgaris [C17.800.827.405]
Ichthyosis, X-Linked [C17.800.827.408]
Incontinentia Pigmenti [C17.800.827.420]
Keratoderma, Palmoplantar [C17.800.827.475]  +
Leukokeratosis, Hereditary Mucosal [C17.800.827.595]
Monilethrix [C17.800.827.602]
Muir-Torre Syndrome [C17.800.827.610]
Netherton Syndrome [C17.800.827.655]
Pemphigus, Benign Familial [C17.800.827.700]
Porokeratosis [C17.800.827.730]
Porphyria, Erythropoietic [C17.800.827.738]
Porphyrias, Hepatic [C17.800.827.742]  +
Pseudoxanthoma Elasticum [C17.800.827.750]
Arrow pointing to current tree nodeRothmund-Thomson Syndrome [C17.800.827.775]
Sjogren-Larsson Syndrome [C17.800.827.820]
Trichothiodystrophy Syndromes [C17.800.827.895]
Xeroderma Pigmentosum [C17.800.827.970]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      DNA Repair-Deficiency Disorders [C18.452.284]
Ataxia Telangiectasia [C18.452.284.060]
Bloom Syndrome [C18.452.284.100]
Cockayne Syndrome [C18.452.284.250]
Colorectal Neoplasms, Hereditary Nonpolyposis [C18.452.284.255]
Fanconi Anemia [C18.452.284.280]
Li-Fraumeni Syndrome [C18.452.284.520]
Nijmegen Breakage Syndrome [C18.452.284.600]
Arrow pointing to current tree nodeRothmund-Thomson Syndrome [C18.452.284.760]
Severe Combined Immunodeficiency [C18.452.284.800]
Werner Syndrome [C18.452.284.960]
Xeroderma Pigmentosum [C18.452.284.975]

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