DISEASES Hemic and Lymphatic Diseases [C15] Hemic and Lymphatic Diseases Hematologic Diseases [C15.378] Hematologic Diseases Blood Protein Disorders [C15.378.147] Blood Protein Disorders Dysgammaglobulinemia [C15.378.147.333] Dysgammaglobulinemia Hyper-IgM Immunodeficiency Syndrome [C15.378.147.333.249] Hyper-IgM Immunodeficiency Syndrome Hyper-IgM Immunodeficiency Syndrome, Type 1 [C15.378.147.333.249.500] Hyper-IgM Immunodeficiency Syndrome, Type 1 IgA Deficiency [C15.378.147.333.500] IgA Deficiency IgG Deficiency [C15.378.147.333.750] IgG Deficiency DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Adrenal Hyperplasia, Congenital [C16.320.033] Adrenal Hyperplasia, Congenital Alagille Syndrome [C16.320.051] Alagille Syndrome alpha 1-Antitrypsin Deficiency [C16.320.060] alpha 1-Antitrypsin Deficiency Anemia, Hemolytic, Congenital [C16.320.070] Anemia, Hemolytic, Congenital Anemia, Hypoplastic, Congenital [C16.320.077] Anemia, Hypoplastic, Congenital Ataxia Telangiectasia [C16.320.080] Ataxia Telangiectasia Autoimmune Lymphoproliferative Syndrome [C16.320.089] Autoimmune Lymphoproliferative Syndrome Blood Coagulation Disorders, Inherited [C16.320.099] Blood Coagulation Disorders, Inherited Brugada Syndrome [C16.320.100] Brugada Syndrome CADASIL [C16.320.129] CADASIL Camurati-Engelmann Syndrome [C16.320.144] Camurati-Engelmann Syndrome Cardiomyopathy, Hypertrophic, Familial [C16.320.160] Cardiomyopathy, Hypertrophic, Familial CHARGE Syndrome [C16.320.165] CHARGE Syndrome Cherubism [C16.320.170] Cherubism Chromosome Disorders [C16.320.180] Chromosome Disorders Ciliopathies [C16.320.184] Ciliopathies Costello Syndrome [C16.320.188] Costello Syndrome Cystic Fibrosis [C16.320.190] Cystic Fibrosis Donohue Syndrome [C16.320.215] Donohue Syndrome Dwarfism [C16.320.240] Dwarfism Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Familial Multiple Lipomatosis [C16.320.298] Familial Multiple Lipomatosis Frasier Syndrome [C16.320.306] Frasier Syndrome GATA2 Deficiency [C16.320.314] GATA2 Deficiency Genetic Diseases, X-Linked [C16.320.322] Genetic Diseases, X-Linked Genetic Diseases, Y-Linked [C16.320.338] Genetic Diseases, Y-Linked Hajdu-Cheney Syndrome [C16.320.355] Hajdu-Cheney Syndrome Hemoglobinopathies [C16.320.365] Hemoglobinopathies Hereditary Autoinflammatory Diseases [C16.320.382] Hereditary Autoinflammatory Diseases Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Hyper-IgM Immunodeficiency Syndrome [C16.320.413] Hyper-IgM Immunodeficiency Syndrome Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427] Hyperthyroxinemia, Familial Dysalbuminemic Imprinting Disorders [C16.320.447] Imprinting Disorders Kallmann Syndrome [C16.320.467] Kallmann Syndrome Kartagener Syndrome [C16.320.480] Kartagener Syndrome Laminopathies [C16.320.488] Laminopathies Lennox Gastaut Syndrome [C16.320.495] Lennox Gastaut Syndrome Loeys-Dietz Syndrome [C16.320.510] Loeys-Dietz Syndrome Marfan Syndrome [C16.320.540] Marfan Syndrome Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Muscular Dystrophies [C16.320.577] Muscular Dystrophies Myasthenic Syndromes, Congenital [C16.320.590] Myasthenic Syndromes, Congenital Nail-Patella Syndrome [C16.320.600] Nail-Patella Syndrome Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Oculocerebrorenal Syndrome [C16.320.709] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.320.714] Orofaciodigital Syndromes Osteoarthropathy, Primary Hypertrophic [C16.320.718] Osteoarthropathy, Primary Hypertrophic Osteochondrodysplasias [C16.320.728] Osteochondrodysplasias Osteogenesis Imperfecta [C16.320.737] Osteogenesis Imperfecta Pain Insensitivity, Congenital [C16.320.775] Pain Insensitivity, Congenital Pelger-Huet Anomaly [C16.320.784] Pelger-Huet Anomaly Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Pycnodysostosis [C16.320.812] Pycnodysostosis Renal Tubular Transport, Inborn Errors [C16.320.831] Renal Tubular Transport, Inborn Errors Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Werner Syndrome [C16.320.925] Werner Syndrome Yellow Nail Syndrome [C16.320.962] Yellow Nail Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Ataxia Telangiectasia [C16.320.798.250] Ataxia Telangiectasia Bloom Syndrome [C16.320.798.313] Bloom Syndrome Chediak-Higashi Syndrome [C16.320.798.375] Chediak-Higashi Syndrome Hereditary Complement Deficiency Diseases [C16.320.798.500] Hereditary Complement Deficiency Diseases Hyper-IgM Immunodeficiency Syndrome [C16.320.798.625] Hyper-IgM Immunodeficiency Syndrome Hyper-IgM Immunodeficiency Syndrome, Type 1 [C16.320.798.625.500] Hyper-IgM Immunodeficiency Syndrome, Type 1 Job Syndrome [C16.320.798.688] Job Syndrome Leukocyte-Adhesion Deficiency Syndrome [C16.320.798.719] Leukocyte-Adhesion Deficiency Syndrome Severe Combined Immunodeficiency [C16.320.798.750] Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome [C16.320.798.875] Wiskott-Aldrich Syndrome DISEASES Immune System Diseases [C20] Immune System Diseases Immunologic Deficiency Syndromes [C20.673] Immunologic Deficiency Syndromes Dysgammaglobulinemia [C20.673.430] Dysgammaglobulinemia Hyper-IgM Immunodeficiency Syndrome [C20.673.430.250] Hyper-IgM Immunodeficiency Syndrome Hyper-IgM Immunodeficiency Syndrome, Type 1 [C20.673.430.250.500] Hyper-IgM Immunodeficiency Syndrome, Type 1 IgA Deficiency [C20.673.430.500] IgA Deficiency IgG Deficiency [C20.673.430.750] IgG Deficiency DISEASES Immune System Diseases [C20] Immune System Diseases Immunologic Deficiency Syndromes [C20.673] Immunologic Deficiency Syndromes Primary Immunodeficiency Diseases [C20.673.795] Primary Immunodeficiency Diseases Ataxia Telangiectasia [C20.673.795.250] Ataxia Telangiectasia Bloom Syndrome [C20.673.795.313] Bloom Syndrome Chediak-Higashi Syndrome [C20.673.795.375] Chediak-Higashi Syndrome Hereditary Complement Deficiency Diseases [C20.673.795.500] Hereditary Complement Deficiency Diseases Hyper-IgM Immunodeficiency Syndrome [C20.673.795.625] Hyper-IgM Immunodeficiency Syndrome Hyper-IgM Immunodeficiency Syndrome, Type 1 [C20.673.795.625.500] Hyper-IgM Immunodeficiency Syndrome, Type 1 Job Syndrome [C20.673.795.688] Job Syndrome Leukocyte-Adhesion Deficiency Syndrome [C20.673.795.719] Leukocyte-Adhesion Deficiency Syndrome Severe Combined Immunodeficiency [C20.673.795.750] Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome [C20.673.795.875] Wiskott-Aldrich Syndrome

Hyper-IgM Immunodeficiency Syndrome - Conceito preferido

Identificador do conceito	M0492421
Nota de escopo	A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
Termo preferido	Hyper-IgM Immunodeficiency Syndrome
Termo(s) alternativo(s)	Hyper IgM Immunodeficiency Syndrome Hyper IgM Syndrome Hyper-IgM Immunodeficiency Syndromes Hyper-IgM Syndrome Hyper-IgM Syndromes Immunodeficiency Syndrome, Hyper-IgM Immunodeficiency Syndromes, Hyper-IgM Immunodeficiency with Hyper IgM Syndrome Immunodeficiency with Hyper-IgM Syndrome Syndrome, Hyper-IgM Immunodeficiency Syndromes, Hyper-IgM Immunodeficiency

Hyper-IgM Immunodeficiency Syndrome, Type 5 - Mais específico

Identificador do conceito	M0492428
Termo preferido	Hyper-IgM Immunodeficiency Syndrome, Type 5
Termo(s) alternativo(s)	HIGM5 Syndrome HIGM5 Syndromes Hyper IgM Immunodeficiency Syndrome Type 5 Hyper IgM Immunodeficiency Syndrome, Type 5 Hyper IgM Syndrome 5 Hyper-IgM Immunodeficiency Syndrome Type 5 Hyper-IgM Syndrome 5 Hyper-IgM Syndrome 5s Immunodeficiency with Hyper IgM, Type 5 Immunodeficiency with Hyper-IgM, Type 5

Hyper-IgM Immunodeficiency Syndrome, Type 2 - Mais específico

Identificador do conceito	M0492422
Nota de escopo	Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding activation-induced CYTIDINE DEAMINASE.
Termo preferido	Hyper-IgM Immunodeficiency Syndrome, Type 2
Termo(s) alternativo(s)	HIGM2 Syndrome HIGM2 Syndromes Hyper IgM Immunodeficiency Syndrome Type 2 Hyper IgM Immunodeficiency Syndrome, Type 2 Hyper IgM Syndrome 2 Hyper-IgM Immunodeficiency Syndrome Type 2 Hyper-IgM Syndrome 2 Immunodeficiency with Hyper IgM, Type 2 Immunodeficiency with Hyper-IgM, Type 2

Hyper-IgM Immunodeficiency Syndrome, Type 3 - Mais específico

Identificador do conceito	M0492427
Nota de escopo	Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 ANTIGEN.
Termo preferido	Hyper-IgM Immunodeficiency Syndrome, Type 3
Termo(s) alternativo(s)	HIGM3 Syndrome HIGM3 Syndromes Hyper IgM Immunodeficiency Syndrome Type 3 Hyper IgM Immunodeficiency Syndrome, Type 3 Hyper IgM Syndrome 3 Hyper-IgM Immunodeficiency Syndrome Type 3 Hyper-IgM Syndrome 3 Immunodeficiency with Hyper IgM, Type 3 Immunodeficiency with Hyper-IgM, Type 3