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782964007: Genetic disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3756960017 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3756961018 Genetic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

4225 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease Is a Disease (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
DNA instability syndrome Is a True Genetic disease Inferred relationship Some
Hereditary disease Is a True Genetic disease Inferred relationship Some
Osteogenesis imperfecta Is a True Genetic disease Inferred relationship Some
Microcystic renal disease Is a True Genetic disease Inferred relationship Some
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Is a True Genetic disease Inferred relationship Some
Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) Is a True Genetic disease Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) Is a True Genetic disease Inferred relationship Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Genetic disease Inferred relationship Some
Myopathy and diabetes mellitus (disorder) Is a True Genetic disease Inferred relationship Some
Familial temporal lobe epilepsy (disorder) Is a True Genetic disease Inferred relationship Some
Combined immunodeficiency with granulomatosis Is a True Genetic disease Inferred relationship Some
Conductive deafness, malformed external ear syndrome Is a True Genetic disease Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Taurodontism Is a True Genetic disease Inferred relationship Some
Lissencephaly with cerebellar hypoplasia type E Is a False Genetic disease Inferred relationship Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (disorder) Is a False Genetic disease Inferred relationship Some
Genetic defect of hair shaft (disorder) Is a True Genetic disease Inferred relationship Some
Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion Is a True Genetic disease Inferred relationship Some
Genetic disorder of nail (disorder) Is a True Genetic disease Inferred relationship Some
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Is a True Genetic disease Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a True Genetic disease Inferred relationship Some
Rabson-Mendenhall syndrome Associated with True Genetic disease Inferred relationship Some 2
Myopathy and diabetes mellitus (disorder) Associated with True Genetic disease Inferred relationship Some 3
Diabetes-deafness syndrome maternally transmitted Associated with True Genetic disease Inferred relationship Some 1
Diabetes mellitus associated with genetic syndrome Associated with True Genetic disease Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Due to False Genetic disease Inferred relationship Some 3
Wolfram-like syndrome (disorder) Due to True Genetic disease Inferred relationship Some 4
Hyperproinsulinaemia Associated with False Genetic disease Inferred relationship Some 1
insulinafhængig diabetes mellitus med sekretorisk diarésyndrom Associated with False Genetic disease Inferred relationship Some 1
Diabetes mellitus AND insipidus with optic atrophy AND deafness Associated with True Genetic disease Inferred relationship Some 3
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Due to True Genetic disease Inferred relationship Some 4
Impaired glucose tolerance associated with genetic syndrome Associated with True Genetic disease Inferred relationship Some 1
Hemolytic uremic syndrome Is a True Genetic disease Inferred relationship Some
Boomerang dysplasia Is a True Genetic disease Inferred relationship Some
Osteoglophonic dysplasia Is a True Genetic disease Inferred relationship Some
Winchester syndrome Is a True Genetic disease Inferred relationship Some
Congenital wooly hair (disorder) Is a True Genetic disease Inferred relationship Some
Williams syndrome Is a True Genetic disease Inferred relationship Some
Maffucci syndrome Is a True Genetic disease Inferred relationship Some
Klippel-Feil sequence Is a True Genetic disease Inferred relationship Some
Angelman syndrome Is a True Genetic disease Inferred relationship Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Is a True Genetic disease Inferred relationship Some
Prader-Willi syndrome Is a True Genetic disease Inferred relationship Some
Hallermann-Streiff syndrome Is a True Genetic disease Inferred relationship Some
Focal facial dermal dysplasia (disorder) Is a True Genetic disease Inferred relationship Some
Trinucleotide repeat disorder (disorder) Is a True Genetic disease Inferred relationship Some
Woodhouse Sakati syndrome Associated with True Genetic disease Inferred relationship Some 4
Blau syndrome Is a True Genetic disease Inferred relationship Some
Generalized glucocorticoid resistance syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Male infertility of genetic origin Is a True Genetic disease Inferred relationship Some
Cogan-Reese syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Genetic lipodystrophy (disorder) Is a True Genetic disease Inferred relationship Some
Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder) Is a True Genetic disease Inferred relationship Some
Familial hematuria (disorder) Is a True Genetic disease Inferred relationship Some
Isolated familial renal hypomagnesemia Is a True Genetic disease Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Associated with True Genetic disease Inferred relationship Some 7
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Associated with True Genetic disease Inferred relationship Some 7
Amyotrophic lateral sclerosis, parkinsonism, dementia complex Is a True Genetic disease Inferred relationship Some
Barber-Say syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Postlingual non-syndromic genetic deafness Is a True Genetic disease Inferred relationship Some
Prelingual non-syndromic genetic deafness (disorder) Is a True Genetic disease Inferred relationship Some
Generalised pustular psoriasis Is a True Genetic disease Inferred relationship Some
Cerebro-costo-mandibular syndrome Is a True Genetic disease Inferred relationship Some
Familial multiple lipomata (disorder) Is a True Genetic disease Inferred relationship Some
Short rib dysplasia Is a True Genetic disease Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
Humeroradioulnar synostosis Is a True Genetic disease Inferred relationship Some
Familial lambdoid synostosis Is a True Genetic disease Inferred relationship Some
Capra DeMarco syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Solitary median maxillary central incisor syndrome Is a True Genetic disease Inferred relationship Some
Acrocephalosyndactyly Is a True Genetic disease Inferred relationship Some
Cloverleaf skull syndrome Is a True Genetic disease Inferred relationship Some
Familial isolated clinodactyly of finger (disorder) Is a True Genetic disease Inferred relationship Some
Emery-Dreifuss muscular dystrophy Is a False Genetic disease Inferred relationship Some
Primary tethered cord syndrome Is a True Genetic disease Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a True Genetic disease Inferred relationship Some
Adenocarcinoma of pancreas with neuregulin 1 gene fusion (disorder) Is a True Genetic disease Inferred relationship Some
Non-small cell lung carcinoma with NRG1 fusion Is a True Genetic disease Inferred relationship Some
Muscular dystrophy Is a True Genetic disease Inferred relationship Some
Malignant tumor of esophagus with NRG1 fusion Is a True Genetic disease Inferred relationship Some
Hadziselimovic syndrome Is a True Genetic disease Inferred relationship Some
Female infertility due to genetic disease (disorder) Due to True Genetic disease Inferred relationship Some 3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Cole-Carpenter dysplasia (disorder) Is a True Genetic disease Inferred relationship Some
Progressive supranuclear palsy Is a True Genetic disease Inferred relationship Some

This concept is not in any reference sets

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