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32895009: Hereditary disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
54901018 Hereditary disease en Synonym Active Entire term case insensitive SNOMED CT core module
54902013 Hereditary disease, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
54903015 Inherited disease, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
54904014 Genetic disease, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
54905010 Inherited disease en Synonym Active Entire term case insensitive SNOMED CT core module
54906011 Genetic disease en Synonym Inactive Entire term case insensitive SNOMED CT core module
764232019 Hereditary disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4616 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disease Is a Disease false Inferred relationship Existential restriction modifier
Hereditary disease Is a Genetic disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary disease in family possibly affecting fetus Is a True Hereditary disease Inferred relationship Existential restriction modifier
Genetic syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Autosomal hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier
Hereditary retinal dystrophy Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary choroidal dystrophy Is a False Hereditary disease Inferred relationship Existential restriction modifier
Polygenic hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier
Sex-linked hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier
Connective tissue hereditary disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier
Developmental hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier
Hereditary disorder by system Is a True Hereditary disease Inferred relationship Existential restriction modifier
Inflammatory hereditary disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier
Mendelian disorders Is a True Hereditary disease Inferred relationship Existential restriction modifier
Metabolic hereditary disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier
Inherited disorder of connective tissue Is a False Hereditary disease Inferred relationship Existential restriction modifier
Sequelae of hereditary diseases Temporally follows False Hereditary disease Inferred relationship Existential restriction modifier
Genetic counseling Has focus True Hereditary disease Inferred relationship Existential restriction modifier 2
Inborn error of metabolism Is a False Hereditary disease Inferred relationship Existential restriction modifier
Sequelae of hereditary diseases After True Hereditary disease Inferred relationship Existential restriction modifier 1
Congenital elliptocytosis Is a False Hereditary disease Inferred relationship Existential restriction modifier
Familial erythrocytosis Is a False Hereditary disease Inferred relationship Existential restriction modifier
Thalassemia Is a False Hereditary disease Inferred relationship Existential restriction modifier
Citrullinemia Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary acanthocytosis Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary lymphedema Is a False Hereditary disease Inferred relationship Existential restriction modifier
Family history of hereditary disease Associated finding False Hereditary disease Inferred relationship Existential restriction modifier 1
Inherited platelet disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary hypoplasminogenemia Is a True Hereditary disease Inferred relationship Existential restriction modifier
Hereditary dysplasminogenemia Is a True Hereditary disease Inferred relationship Existential restriction modifier
Hereditary motor end-plate disease Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary coagulation factor deficiency Is a True Hereditary disease Inferred relationship Existential restriction modifier
Familial hemorrhagic diathesis Is a True Hereditary disease Inferred relationship Existential restriction modifier
Family history of hereditary disease Associated finding True Hereditary disease Inferred relationship Existential restriction modifier 1
Hereditary pancreatitis Is a False Hereditary disease Inferred relationship Existential restriction modifier
Familial Mediterranean fever Is a False Hereditary disease Inferred relationship Existential restriction modifier
Family history of hereditary disease Associated finding False Hereditary disease Inferred relationship Existential restriction modifier 1
Fetus with hereditary disease Is a True Hereditary disease Inferred relationship Existential restriction modifier
Inherited aminoaciduria Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary cancer-predisposing syndrome Is a True Hereditary disease Inferred relationship Existential restriction modifier
Suspected hereditary disease Associated finding True Hereditary disease Inferred relationship Existential restriction modifier 1
Genetic counseling for heritable disorder with patient at risk Has focus True Hereditary disease Inferred relationship Existential restriction modifier 1
Genetic counseling for heritable disorder with fetus at risk Has focus True Hereditary disease Inferred relationship Existential restriction modifier 2
Congenital vascular malformation due to inherited syndrome Due to True Hereditary disease Inferred relationship Existential restriction modifier 2
Congenital dyserythropoietic anemia Is a False Hereditary disease Inferred relationship Existential restriction modifier
Gingival disease due to genetic disorder Due to True Hereditary disease Inferred relationship Existential restriction modifier 1
Connective tissue hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier
Syndactyly of fingers type 8 Is a False Hereditary disease Inferred relationship Existential restriction modifier
Growth delay due to insulin-like growth factor I resistance Is a False Hereditary disease Inferred relationship Existential restriction modifier
Postaxial polydactyly type A Is a False Hereditary disease Inferred relationship Existential restriction modifier
Postaxial polydactyly type B Is a False Hereditary disease Inferred relationship Existential restriction modifier
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Obesity due to melanocortin 4 receptor deficiency Is a True Hereditary disease Inferred relationship Existential restriction modifier
Familial thyroglossal duct cyst Is a True Hereditary disease Inferred relationship Existential restriction modifier
Inherited predisposition to essential thrombocythemia Is a False Hereditary disease Inferred relationship Existential restriction modifier
Atypical Rett syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Tetraamelia with multiple malformation syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Dianzani autoimmune lymphoproliferative disease Is a False Hereditary disease Inferred relationship Existential restriction modifier
Blepharonasofacial malformation syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Severe congenital hypochromic anemia with ringed sideroblasts Is a True Hereditary disease Inferred relationship Existential restriction modifier
Monogenic autoinflammatory syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Marfanoid syndrome De Silva type Is a False Hereditary disease Inferred relationship Existential restriction modifier
Non-androgenic hypertrichosis co-occurrent and due to genetic disease Due to True Hereditary disease Inferred relationship Existential restriction modifier 2
Hereditary amyloidosis Is a True Hereditary disease Inferred relationship Existential restriction modifier
Hereditary vitamin B12 deficiency anemia Is a True Hereditary disease Inferred relationship Existential restriction modifier
Hereditary folate deficiency anemia Is a True Hereditary disease Inferred relationship Existential restriction modifier
Family history of heritable malignancy Associated finding True Hereditary disease Inferred relationship Existential restriction modifier 1
Kabuki make-up syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Epigenetic disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier
Familial benign copper deficiency Is a False Hereditary disease Inferred relationship Existential restriction modifier
Craniodigital syndrome and intellectual disability syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary ataxia Is a False Hereditary disease Inferred relationship Existential restriction modifier
Malan overgrowth syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier
Rare non-syndromic intellectual disability Is a False Hereditary disease Inferred relationship Existential restriction modifier
Chronic granulomatous disease Is a True Hereditary disease Inferred relationship Existential restriction modifier
Inherited arthrogryposis Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary hypertyrosinemia Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary hemochromatosis Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary thrombophilia Is a True Hereditary disease Inferred relationship Existential restriction modifier
Hereditary xanthinuria Is a False Hereditary disease Inferred relationship Existential restriction modifier
Inherited disorder of porphyrin metabolism Is a False Hereditary disease Inferred relationship Existential restriction modifier
Inherited methylmalonic acidemia AND homocystinuria Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary angioedema Is a True Hereditary disease Inferred relationship Existential restriction modifier
Sea-blue histiocyte syndrome Is a True Hereditary disease Inferred relationship Existential restriction modifier
Hereditary iron deficiency anemia Is a True Hereditary disease Inferred relationship Existential restriction modifier
Maternally inherited mitochondrial deoxyribonucleic acid disease Is a True Hereditary disease Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease Is a True Hereditary disease Inferred relationship Existential restriction modifier
Thymidine kinase 2 deficiency Is a False Hereditary disease Inferred relationship Existential restriction modifier
Hereditary metabolic disease Is a True Hereditary disease Inferred relationship Existential restriction modifier
Dystonia due to hereditary disease Due to True Hereditary disease Inferred relationship Existential restriction modifier 3
Suspected hereditary disease Associated finding False Hereditary disease Inferred relationship Existential restriction modifier 1
Suspected glutaric aciduria type 1 Associated finding True Hereditary disease Inferred relationship Existential restriction modifier 2
Suspected homocystinuria Associated finding True Hereditary disease Inferred relationship Existential restriction modifier 2

This concept is not in any reference sets

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