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

32895009: Hereditary disease (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
54901018 Hereditary disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
54905010 Inherited disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
54906011 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
764232019 Hereditary disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

3182 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disease Is a Disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary disease in family possibly affecting fetus Is a True Hereditary disease Inferred relationship Some
Genetic syndrome Is a True Hereditary disease Inferred relationship Some
Autosomal hereditary disorder Is a True Hereditary disease Inferred relationship Some
Hereditary retinal dystrophy Is a False Hereditary disease Inferred relationship Some
Hereditary choroidal dystrophy Is a False Hereditary disease Inferred relationship Some
Polygenic hereditary disorder Is a True Hereditary disease Inferred relationship Some
Sex-linked hereditary disorder Is a True Hereditary disease Inferred relationship Some
Connective tissue hereditary disorder (disorder) 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 True 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
Inherited disorder of connective tissue Is a False Hereditary disease Inferred relationship Some
Sequelae of hereditary diseases Temporally follows False Hereditary disease Inferred relationship Some
Genetic counseling Has focus True Hereditary disease Inferred relationship Some
Inborn error of metabolism Is a True Hereditary disease Inferred relationship Some
Sequelae of hereditary diseases After True Hereditary disease Inferred relationship Some
Congenital elliptocytosis Is a False Hereditary disease Inferred relationship Some
Familial erythrocytosis Is a False Hereditary disease Inferred relationship Some
Thalassemia Is a False Hereditary disease Inferred relationship Some
Citrullinemia (disorder) Is a True Hereditary disease Inferred relationship Some
Hereditary acanthocytosis Is a False Hereditary disease Inferred relationship Some
Hereditary lymphedema Is a True Hereditary disease Inferred relationship Some
Inherited platelet disorder Is a False Hereditary disease Inferred relationship Some
Hereditary hypoplasminogenemia Is a True Hereditary disease Inferred relationship Some
Hereditary dysplasminogenemia 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 hemorrhagic diathesis Is a True Hereditary disease Inferred relationship Some
Hereditary pancreatitis Is a False Hereditary disease Inferred relationship Some
Familial Mediterranean fever Is a False Hereditary disease Inferred relationship Some
Fetus with hereditary disease Is a True Hereditary disease Inferred relationship Some
Inherited aminoaciduria Is a True Hereditary disease Inferred relationship Some
Hereditary cancer-predisposing syndrome Is a True Hereditary disease Inferred relationship Some
Genetic counseling for heritable disorder with patient at risk Has focus True Hereditary disease Inferred relationship Some
Genetic counseling for heritable disorder with fetus at risk Has focus True Hereditary disease Inferred relationship Some
Congenital vascular malformation due to inherited syndrome (disorder) Due to True Hereditary disease Inferred relationship Some
Congenital dyserythropoietic anemia Is a False Hereditary disease Inferred relationship Some
Gingival disease due to genetic disorder (disorder) Due to True Hereditary disease Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a True Hereditary disease Inferred relationship Some
Syndactyly of fingers type 8 (disorder) Is a True Hereditary disease Inferred relationship Some
Growth delay due to insulin-like growth factor I resistance (disorder) Is a True Hereditary disease Inferred relationship Some
Postaxial polydactyly type A (disorder) Is a True Hereditary disease Inferred relationship Some
Postaxial polydactyly type B (disorder) Is a True Hereditary disease Inferred relationship Some
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) Is a True Hereditary disease Inferred relationship Some
Obesity due to melanocortin 4 receptor deficiency (disorder) Is a True Hereditary disease Inferred relationship Some
Familial thyroglossal duct cyst (disorder) Is a True Hereditary disease Inferred relationship Some
Inherited predisposition to essential thrombocythemia (disorder) Is a True Hereditary disease Inferred relationship Some
Atypical Rett syndrome (disorder) Is a True Hereditary disease Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a True Hereditary disease Inferred relationship Some
Dianzani autoimmune lymphoproliferative disease (disorder) Is a False Hereditary disease Inferred relationship Some
Blepharonasofacial malformation syndrome (disorder) Is a True Hereditary disease Inferred relationship Some
Severe congenital hypochromic anemia with ringed sideroblasts (disorder) Is a True Hereditary disease Inferred relationship Some
Monogenic autoinflammatory syndrome (disorder) Is a True Hereditary disease Inferred relationship Some
Marfanoid syndrome De Silva type (disorder) Is a True Hereditary disease Inferred relationship Some
Non-androgenic hypertrichosis co-occurrent and due to genetic disease (disorder) Due to True Hereditary disease Inferred relationship Some
Hereditary amyloidosis (disorder) Is a True Hereditary disease Inferred relationship Some
Hereditary vitamin B12 deficiency anemia (disorder) Is a True Hereditary disease Inferred relationship Some
Hereditary folate deficiency anemia (disorder) Is a True Hereditary disease Inferred relationship Some
Kabuki make-up syndrome Is a True Hereditary disease Inferred relationship Some
Epigenetic disorder Is a True Hereditary disease Inferred relationship Some
Familial benign copper deficiency Is a True Hereditary disease Inferred relationship Some
Craniodigital syndrome and intellectual disability syndrome Is a True Hereditary disease Inferred relationship Some
Hereditary ataxia (disorder) Is a True Hereditary disease Inferred relationship Some
Malan overgrowth syndrome Is a True Hereditary disease Inferred relationship Some
Family history of hereditary disease (situation) Associated finding False Hereditary disease Inferred relationship Some 1
Family history of hereditary disease (situation) Associated finding True Hereditary disease Inferred relationship Some 1
Family history of hereditary disease (situation) Associated finding False Hereditary disease Inferred relationship Some 1
Suspected hereditary disease Associated finding True Hereditary disease Inferred relationship Some 1
Family history of heritable malignancy (situation) Associated finding True Hereditary disease Inferred relationship Some 1

This concept is not in any reference sets

Back to Start