36138009: Congenital immunodeficiency disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease

\Fetal and/or neonatal disorder\Congenital disease\Congenital immunodeficiency disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital immunodeficiency disease	Is a	Congenital disease	true	Inferred relationship	Some
Congenital immunodeficiency disease	Is a	Immunodeficiency disorder	true	Inferred relationship	Some
Congenital immunodeficiency disease	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Congenital immunodeficiency disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital immunodeficiency disease	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Congenital immunodeficiency disease	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chédiak-Higashi syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Chronic granulomatous disease	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Congenital agammaglobulinemia	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Severe combined immunodeficiency disease	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Wiskott-Aldrich syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Bloom syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Congenital hypergammaglobulinemia	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency disease in Arab foals	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
X-linked lymphoproliferative syndrome	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Congenital neutropenia	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Complement component deficiency	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Congenital immunodeficiency involving the hematopoietic system	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Thymic aplasia or dysplasia with immunodeficiency	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Chronic granulomatous disease (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Immunodeficiency with multicarboxylase deficiency	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Leukozytenadhäsionsdefekt	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Congenital dysphagocytosis	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Shwachman syndrome	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Immuno-osseous dysplasia	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare DNA repair defect other than combined T-cell and B-cell immunodeficiencies characterized by intrauterine and postnatal growth retardation resulting in short stature, microcephaly, glucocorticoid deficiency, natural killer cell deficiency, and recurrent viral infections. Patients may also have increased susceptibility to cancer.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare genetic primary immunodeficiency characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Leucocyte adhesion deficiency - type 2	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Family history of congenital immunodeficiency disease (situation)	Associated finding	True	Congenital immunodeficiency disease	Inferred relationship	Some	1
A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects.	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Netherton syndrome	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Is a	False	Congenital immunodeficiency disease	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder)	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect	Is a	True	Congenital immunodeficiency disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
60302011	Congenital immunodeficiency disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767855015	Congenital immunodeficiency disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1876331000195118	malattia da immunodeficienza congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
67451000077114	immunodéficience congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
381581000274114	Angeborener Immundefekt	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module