FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

32895009: Hereditary disease (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

4620 descendants. Search Descendants:

Expanded Value Set

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start