FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

32895009: Hereditary disease (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
54901018 Hereditary disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
54905010 Inherited disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
764232019 Hereditary disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
54901018 Hereditary disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
54901018 Hereditary disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
54905010 Inherited disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
54905010 Inherited disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
54906011 Genetic disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
54906011 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
764232019 Hereditary disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
764232019 Hereditary disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3891000077111 maladie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
40021000188114 pathologie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3891000077111 maladie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
40021000188114 pathologie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4823 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 (core metadata concept)
Hereditary disease Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
syndrome génétique Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary choroidal dystrophy (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Polygenic hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Sex-linked hereditary disorder (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Developmental hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder by system (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
trouble inflammatoire héréditaire Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian disorders Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic hereditary disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
affection héréditaire du tissu conjonctif Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Sequelae of hereditary diseases Temporally follows (attribute) False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Genetic counseling Has focus True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Inborn error of metabolism Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Sequelae of hereditary diseases After True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 1
elliptocytose congénitale Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial erythrocytosis Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Thalassaemia Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Citrullinemia (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary acanthocytosis (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary lymphedema Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Family history of hereditary disease (situation) Associated finding False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited platelet disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypoplasminogenemia Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary dysplasminogenaemia Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor end-plate disease Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary coagulation factor deficiency Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hemorrhagic diathesis Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Family history of hereditary disease (situation) Associated finding True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary pancreatitis Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial Mediterranean fever Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Family history of hereditary disease (situation) Associated finding False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with hereditary disease Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Inherited aminoaciduria (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cancer-predisposing syndrome Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Suspected hereditary disease Associated finding True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic counseling for heritable disorder with patient at risk (procedure) Has focus True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic counseling for heritable disorder with fetus at risk Has focus True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital vascular malformation due to inherited syndrome (disorder) Due to True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital dyserythropoietic anaemia Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Gingival disease due to genetic disorder (disorder) Due to True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Connective tissue hereditary disorder Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly of fingers type 8 (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor I resistance (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial polydactyly type A (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial polydactyly type B (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Mehes syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Obesity due to melanocortin 4 receptor deficiency (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial thyroglossal duct cyst (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Inherited predisposition to essential thrombocythemia Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe. Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Blepharonasofacial malformation syndrome (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe congenital hypochromic anaemia with ringed sideroblasts Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Monogenic autoinflammatory syndrome (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid syndrome De Silva type (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Non-androgenic hypertrichosis with genetic disease Due to True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary amyloidosis (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary vitamin B12 deficiency anemia (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary folate deficiency anemia Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Family history of heritable malignancy (situation) Associated finding True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Kabuki make-up syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Epigenetic disorder Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial benign copper deficiency Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Craniodigital syndrome and intellectual disability syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary ataxia (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Malan overgrowth syndrome Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Chronic granulomatous disease (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Inherited arthrogryposis Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypertyrosinemia (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombophilia (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of porphyrin metabolism (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Inherited methylmalonic acidemia AND homocystinuria (disorder) Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary angio-oedema Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Sea-blue histiocyte syndrome Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary iron deficiency anemia Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Mendelian susceptibility to mycobacterial disease (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Thymidine kinase 2 deficiency Is a False Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary metabolic disease Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Dystonia due to hereditary disease (disorder) Due to True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary arginine vasopressin-related polyuria (disorder) Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)
Isolated agammaglobulinemia Is a True Hereditary disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start