DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic [C16.131.077.350.198] Ectodermal Dysplasia 1, Anhidrotic Ectodermal Dysplasia 3, Anhidrotic [C16.131.077.350.298] Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.131.077.350.348] Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Ellis-Van Creveld Syndrome [C16.131.077.350.398] Ellis-Van Creveld Syndrome Focal Dermal Hypoplasia [C16.131.077.350.424] Focal Dermal Hypoplasia Focal Facial Dermal Dysplasias [C16.131.077.350.568] Focal Facial Dermal Dysplasias Neurocutaneous Syndromes [C16.131.077.350.712] Neurocutaneous Syndromes Pachyonychia Congenita [C16.131.077.350.856] Pachyonychia Congenita Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Skin Abnormalities [C16.131.831] Skin Abnormalities Acrodermatitis [C16.131.831.066] Acrodermatitis Carney Complex [C16.131.831.108] Carney Complex Dyskeratosis Congenita [C16.131.831.150] Dyskeratosis Congenita Ectodermal Dysplasia [C16.131.831.350] Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic [C16.131.831.350.198] Ectodermal Dysplasia 1, Anhidrotic Ectodermal Dysplasia 3, Anhidrotic [C16.131.831.350.298] Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.131.831.350.348] Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Ellis-Van Creveld Syndrome [C16.131.831.350.398] Ellis-Van Creveld Syndrome Focal Dermal Hypoplasia [C16.131.831.350.424] Focal Dermal Hypoplasia Focal Facial Dermal Dysplasias [C16.131.831.350.568] Focal Facial Dermal Dysplasias Neurocutaneous Syndromes [C16.131.831.350.712] Neurocutaneous Syndromes Pachyonychia Congenita [C16.131.831.350.856] Pachyonychia Congenita Ehlers-Danlos Syndrome [C16.131.831.428] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C16.131.831.493] Epidermolysis Bullosa Ichthyosis [C16.131.831.512] Ichthyosis Incontinentia Pigmenti [C16.131.831.580] Incontinentia Pigmenti Port-Wine Stain [C16.131.831.675] Port-Wine Stain Prolidase Deficiency [C16.131.831.720] Prolidase Deficiency Pseudoxanthoma Elasticum [C16.131.831.766] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C16.131.831.775] Rothmund-Thomson Syndrome Sclerema Neonatorum [C16.131.831.812] Sclerema Neonatorum Trichothiodystrophy Syndromes [C16.131.831.874] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C16.131.831.936] Xeroderma Pigmentosum DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Albinism [C16.320.850.080] Albinism Cutis Laxa [C16.320.850.180] Cutis Laxa Darier Disease [C16.320.850.190] Darier Disease Dermatitis, Atopic [C16.320.850.210] Dermatitis, Atopic Dyskeratosis Congenita [C16.320.850.235] Dyskeratosis Congenita Ectodermal Dysplasia [C16.320.850.250] Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic [C16.320.850.250.198] Ectodermal Dysplasia 1, Anhidrotic Ectodermal Dysplasia 3, Anhidrotic [C16.320.850.250.298] Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.320.850.250.348] Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Ellis-Van Creveld Syndrome [C16.320.850.250.398] Ellis-Van Creveld Syndrome Focal Dermal Hypoplasia [C16.320.850.250.424] Focal Dermal Hypoplasia Focal Facial Dermal Dysplasias [C16.320.850.250.568] Focal Facial Dermal Dysplasias Neurocutaneous Syndromes [C16.320.850.250.712] Neurocutaneous Syndromes Pachyonychia Congenita [C16.320.850.250.856] Pachyonychia Congenita Ehlers-Danlos Syndrome [C16.320.850.260] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C16.320.850.275] Epidermolysis Bullosa Erythrokeratodermia Variabilis [C16.320.850.337] Erythrokeratodermia Variabilis Hyaline Fibromatosis Syndrome [C16.320.850.368] Hyaline Fibromatosis Syndrome Ichthyosiform Erythroderma, Congenital [C16.320.850.400] Ichthyosiform Erythroderma, Congenital Ichthyosis Bullosa of Siemens [C16.320.850.402] Ichthyosis Bullosa of Siemens Ichthyosis Vulgaris [C16.320.850.405] Ichthyosis Vulgaris Ichthyosis, X-Linked [C16.320.850.408] Ichthyosis, X-Linked Incontinentia Pigmenti [C16.320.850.420] Incontinentia Pigmenti Keratoderma, Palmoplantar [C16.320.850.475] Keratoderma, Palmoplantar Leukokeratosis, Hereditary Mucosal [C16.320.850.542] Leukokeratosis, Hereditary Mucosal Lipoid Proteinosis of Urbach and Wiethe [C16.320.850.595] Lipoid Proteinosis of Urbach and Wiethe Monilethrix [C16.320.850.647] Monilethrix Netherton Syndrome [C16.320.850.673] Netherton Syndrome Pemphigus, Benign Familial [C16.320.850.700] Pemphigus, Benign Familial Porokeratosis [C16.320.850.730] Porokeratosis Porphyria, Erythropoietic [C16.320.850.738] Porphyria, Erythropoietic Porphyrias, Hepatic [C16.320.850.742] Porphyrias, Hepatic Prolidase Deficiency [C16.320.850.746] Prolidase Deficiency Pseudoxanthoma Elasticum [C16.320.850.750] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C16.320.850.765] Rothmund-Thomson Syndrome Sjogren-Larsson Syndrome [C16.320.850.820] Sjogren-Larsson Syndrome Trichothiodystrophy Syndromes [C16.320.850.895] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C16.320.850.970] Xeroderma Pigmentosum DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Skin Diseases [C17.800] Skin Diseases Skin Abnormalities [C17.800.804] Skin Abnormalities Acrodermatitis [C17.800.804.066] Acrodermatitis Anetoderma [C17.800.804.108] Anetoderma Dyskeratosis Congenita [C17.800.804.150] Dyskeratosis Congenita Ectodermal Dysplasia [C17.800.804.350] Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic [C17.800.804.350.198] Ectodermal Dysplasia 1, Anhidrotic Ectodermal Dysplasia 3, Anhidrotic [C17.800.804.350.298] Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C17.800.804.350.348] Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Ellis-Van Creveld Syndrome [C17.800.804.350.398] Ellis-Van Creveld Syndrome Focal Dermal Hypoplasia [C17.800.804.350.424] Focal Dermal Hypoplasia Focal Facial Dermal Dysplasias [C17.800.804.350.568] Focal Facial Dermal Dysplasias Neurocutaneous Syndromes [C17.800.804.350.712] Neurocutaneous Syndromes Pachyonychia Congenita [C17.800.804.350.856] Pachyonychia Congenita Ehlers-Danlos Syndrome [C17.800.804.428] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C17.800.804.493] Epidermolysis Bullosa Ichthyosis [C17.800.804.512] Ichthyosis Incontinentia Pigmenti [C17.800.804.580] Incontinentia Pigmenti Port-Wine Stain [C17.800.804.675] Port-Wine Stain Pseudoxanthoma Elasticum [C17.800.804.766] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C17.800.804.775] Rothmund-Thomson Syndrome Sclerema Neonatorum [C17.800.804.812] Sclerema Neonatorum Trichothiodystrophy Syndromes [C17.800.804.874] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C17.800.804.936] Xeroderma Pigmentosum DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Skin Diseases [C17.800] Skin Diseases Skin Diseases, Genetic [C17.800.827] Skin Diseases, Genetic Albinism [C17.800.827.080] Albinism Cutis Laxa [C17.800.827.180] Cutis Laxa Darier Disease [C17.800.827.190] Darier Disease Dermatitis, Atopic [C17.800.827.210] Dermatitis, Atopic Dyskeratosis Congenita [C17.800.827.235] Dyskeratosis Congenita Ectodermal Dysplasia [C17.800.827.250] Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic [C17.800.827.250.198] Ectodermal Dysplasia 1, Anhidrotic Ectodermal Dysplasia 3, Anhidrotic [C17.800.827.250.298] Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C17.800.827.250.348] Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Ellis-Van Creveld Syndrome [C17.800.827.250.398] Ellis-Van Creveld Syndrome Focal Dermal Hypoplasia [C17.800.827.250.424] Focal Dermal Hypoplasia Focal Facial Dermal Dysplasias [C17.800.827.250.568] Focal Facial Dermal Dysplasias Neurocutaneous Syndromes [C17.800.827.250.712] Neurocutaneous Syndromes Pachyonychia Congenita [C17.800.827.250.856] Pachyonychia Congenita Ehlers-Danlos Syndrome [C17.800.827.260] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C17.800.827.275] Epidermolysis Bullosa Erythrokeratodermia Variabilis [C17.800.827.337] Erythrokeratodermia Variabilis Hereditary Autoinflammatory Diseases [C17.800.827.368] Hereditary Autoinflammatory Diseases Hyaline Fibromatosis Syndrome [C17.800.827.384] Hyaline Fibromatosis Syndrome Ichthyosiform Erythroderma, Congenital [C17.800.827.400] Ichthyosiform Erythroderma, Congenital Ichthyosis Bullosa of Siemens [C17.800.827.403] Ichthyosis Bullosa of Siemens Ichthyosis Vulgaris [C17.800.827.405] Ichthyosis Vulgaris Ichthyosis, X-Linked [C17.800.827.408] Ichthyosis, X-Linked Incontinentia Pigmenti [C17.800.827.420] Incontinentia Pigmenti Keratoderma, Palmoplantar [C17.800.827.475] Keratoderma, Palmoplantar Leukokeratosis, Hereditary Mucosal [C17.800.827.595] Leukokeratosis, Hereditary Mucosal Monilethrix [C17.800.827.602] Monilethrix Muir-Torre Syndrome [C17.800.827.610] Muir-Torre Syndrome Netherton Syndrome [C17.800.827.655] Netherton Syndrome Pemphigus, Benign Familial [C17.800.827.700] Pemphigus, Benign Familial Porokeratosis [C17.800.827.730] Porokeratosis Porphyria, Erythropoietic [C17.800.827.738] Porphyria, Erythropoietic Porphyrias, Hepatic [C17.800.827.742] Porphyrias, Hepatic Pseudoxanthoma Elasticum [C17.800.827.750] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C17.800.827.775] Rothmund-Thomson Syndrome Sjogren-Larsson Syndrome [C17.800.827.820] Sjogren-Larsson Syndrome Trichothiodystrophy Syndromes [C17.800.827.895] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C17.800.827.970] Xeroderma Pigmentosum

Ectodermal Dysplasia - Concepto preferido

UI del concepto	M0007032
Nota de alcance	A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
Término preferido	Ectodermal Dysplasia
Término(s) alternativo(s)	Congenital Ectodermal Defect Congenital Ectodermal Defects Defect, Congenital Ectodermal Defects, Congenital Ectodermal Dysplasia, Ectodermal Dysplasias, Ectodermal Ectodermal Defect, Congenital Ectodermal Defects, Congenital Ectodermal Dysplasias

Aplasia Cutis Congenita - Más estrecho

UI del concepto	M0007035
Término preferido	Aplasia Cutis Congenita
Término(s) alternativo(s)	Aplasia Cutis Congenita, Nonsyndromic

Hidrotic Ectodermal Dysplasia - Más estrecho

UI del concepto	M0007034
Término preferido	Hidrotic Ectodermal Dysplasia
Término(s) alternativo(s)	Autosomal Dominant Hidrotic Ectodermal Dysplasia Clouston Hidrotic Ectodermal Dysplasia Clouston Syndrome Clouston's Hidrotic Ectodermal Dysplasia Clouston's Syndrome Cloustons Syndrome Dysplasia, Hidrotic Ectodermal Dysplasia, Hydrotic Ectodermal Dysplasias, Hidrotic Ectodermal Dysplasias, Hydrotic Ectodermal Ectodermal Dysplasia 2, Hidrotic Ectodermal Dysplasia, Hidrotic Ectodermal Dysplasia, Hidrotic, Autosomal Dominant Ectodermal Dysplasia, Hydrotic Ectodermal Dysplasias, Hydrotic Hidrotic Ectodermal Dysplasia, Autosomal Dominant Hidrotic Ectodermal Dysplasias Hydrotic Ectodermal Dysplasia Hydrotic Ectodermal Dysplasias Syndrome, Clouston Syndrome, Clouston's

Anhidrotic Ectodermal Dysplasia - Más estrecho

UI del concepto	M0492746
Término preferido	Anhidrotic Ectodermal Dysplasia
Término(s) alternativo(s)	Anhidrotic Ectodermal Dysplasias Anhidrotic, Ectodermal Dysplasia Anhidrotics, Ectodermal Dysplasia Anhydrotic Ectodermal Dysplasia Anhydrotic Ectodermal Dysplasias Dysplasia Anhidrotic, Ectodermal Dysplasia Anhidrotics, Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia, Anhydrotic Ectodermal Dysplasias, Anhidrotic Ectodermal Dysplasias, Anhydrotic Ectodermal Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia, Anhydrotic Ectodermal Dysplasias, Anhidrotic Ectodermal Dysplasias, Anhydrotic