FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

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
3756960017 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756961018 Genetic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5325 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease Is a Disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial hyperinsulinemic hypoglycaemia Is a True Genetic disease Inferred relationship Some
Multiple endocrine neoplasia, type 1 Is a True Genetic disease Inferred relationship Some
Multiple endocrine neoplasia type 4 (disorder) Is a True Genetic disease Inferred relationship Some
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a True Genetic disease Inferred relationship Some
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Is a False Genetic disease Inferred relationship Some
Luscan Lumish syndrome Is a True Genetic disease Inferred relationship Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Is a False Genetic disease Inferred relationship Some
Alkaline phosphatase intestinal gene related inflammatory bowel disease (disorder) Is a True Genetic disease Inferred relationship Some
Tripartite motif-containing protein 22-related inflammatory bowel disease (disorder) Is a True Genetic disease Inferred relationship Some
Congenital pseudoarthrosis of limb (disorder) Is a True Genetic disease Inferred relationship Some
SMARCA2-related blepharophimosis, intellectual disability syndrome Is a False Genetic disease Inferred relationship Some
IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome Is a True Genetic disease Inferred relationship Some
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome Is a True Genetic disease Inferred relationship Some
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Is a True Genetic disease Inferred relationship Some
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) Is a False Genetic disease Inferred relationship Some
Early-onset obesity, hyperphagia, severe developmental delay syndrome Is a False Genetic disease Inferred relationship Some
Intermediate DEND syndrome Is a True Genetic disease Inferred relationship Some
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) Is a False Genetic disease Inferred relationship Some
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Is a True Genetic disease Inferred relationship Some
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome Is a True Genetic disease Inferred relationship Some
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Genetic screening for disorder Has focus True Genetic disease Inferred relationship Some 1
CHD8 overgrowth syndrome Is a True Genetic disease Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) Is a False Genetic disease Inferred relationship Some
Schofer Beetz Bohl syndrome Is a True Genetic disease Inferred relationship Some
Thiemann disease familial form (disorder) Is a True Genetic disease Inferred relationship Some
Alexander disease Is a True Genetic disease Inferred relationship Some
CIMDAG syndrome Is a False Genetic disease Inferred relationship Some
Fragile X associated primary ovarian insufficiency Is a True Genetic disease Inferred relationship Some
Cystic fibrosis transmembrane conductance regulator-related disorder (disorder) Is a True Genetic disease Inferred relationship Some
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a False Genetic disease Inferred relationship Some
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a False Genetic disease Inferred relationship Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a False Genetic disease Inferred relationship Some
PAPASH syndrome Is a True Genetic disease Inferred relationship Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a False Genetic disease Inferred relationship Some
Isolated primary pigmented nodular adrenocortical disease (disorder) Is a True Genetic disease Inferred relationship Some
Common variable immunodeficiency due to transmembrane activator and calcium-modulator and cyclophilin ligand interactor deficiency (disorder) Is a True Genetic disease Inferred relationship Some
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) Is a True Genetic disease Inferred relationship Some
Hyperimmunoglobulin E syndrome Is a True Genetic disease Inferred relationship Some
Jansen-de Vries syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Intellectual disability, cupped ears syndrome Is a False Genetic disease Inferred relationship Some
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) Is a False Genetic disease Inferred relationship Some
Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder) Is a True Genetic disease Inferred relationship Some
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Is a True Genetic disease Inferred relationship Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome Is a False Genetic disease Inferred relationship Some
22q11.2 deletion syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Loeys-Dietz syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a True Genetic disease Inferred relationship Some
Mayer Rokitansky Küster Hauser syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Oculogastrointestinal neurodevelopmental syndrome Is a True Genetic disease Inferred relationship Some
Genetic obesity disorder (disorder) Is a True Genetic disease Inferred relationship Some
Hao Fountain syndrome Is a False Genetic disease Inferred relationship Some
Genetic intellectual disability Is a True Genetic disease Inferred relationship Some
Acrokeratoelastoidosis of Costa (disorder) Is a True Genetic disease Inferred relationship Some
Purine rich element binding protein A syndrome (disorder) Is a True Genetic disease Inferred relationship Some
MIR140-related spondyloepiphyseal dysplasia Is a True Genetic disease Inferred relationship Some
ATPase family AAA domain containing 3A mitochondrial disease (disorder) Is a True Genetic disease Inferred relationship Some
Dysplastic cortical hyperostosis (disorder) Is a True Genetic disease Inferred relationship Some
Preaxial digit brachydactyly, webbed fingers (disorder) Is a True Genetic disease Inferred relationship Some
22q13.3 deletion syndrome Is a True Genetic disease Inferred relationship Some
Distal arthrogryposis syndrome Is a True Genetic disease Inferred relationship Some
Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder) Is a True Genetic disease Inferred relationship Some
Isolated polycystic liver disease (disorder) Is a True Genetic disease Inferred relationship Some
Genetic disease of glomerulus (disorder) Is a True Genetic disease Inferred relationship Some
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Diabetes mellitus associated with genetic syndrome Due to True Genetic disease Inferred relationship Some 1
Insulin resistance - type A Due to True Genetic disease Inferred relationship Some 2
Insulin resistance - type B Due to True Genetic disease Inferred relationship Some 3
Extreme insulin resistance with acanthosis nigricans, hirsutism AND abnormal insulin receptors Due to True Genetic disease Inferred relationship Some 4
Rabson-Mendenhall syndrome Due to True Genetic disease Inferred relationship Some 2
Leprechaunism syndrome Due to True Genetic disease Inferred relationship Some 5
Lipoatrophic diabetes Due to True Genetic disease Inferred relationship Some 3
Diabetes mellitus due to genetic defect in insulin action Due to True Genetic disease Inferred relationship Some 2
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Due to True Genetic disease Inferred relationship Some 5
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Due to True Genetic disease Inferred relationship Some 7
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Due to True Genetic disease Inferred relationship Some 6
Maternally inherited diabetes and deafness (disorder) Due to True Genetic disease Inferred relationship Some 1
Myopathy and diabetes mellitus (disorder) Due to True Genetic disease Inferred relationship Some 3
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Due to True Genetic disease Inferred relationship Some 3
Woodhouse Sakati syndrome Due to True Genetic disease Inferred relationship Some 4
Neonatal diabetes mellitus Due to True Genetic disease Inferred relationship Some 3
Transitory neonatal diabetes mellitus (disorder) Due to True Genetic disease Inferred relationship Some 4
Maturity-onset diabetes of the young (disorder) Due to True Genetic disease Inferred relationship Some 2
Maturity onset diabetes of the young, type 1 (disorder) Due to True Genetic disease Inferred relationship Some 2
Permanent neonatal diabetes mellitus (disorder) Due to True Genetic disease Inferred relationship Some 3
Diabetes mellitus due to genetic defect in beta cell function Due to True Genetic disease Inferred relationship Some 2
Maturity-onset diabetes of the young, type 3 (disorder) Due to True Genetic disease Inferred relationship Some 2
Maturity-onset diabetes of the young, type 4 Due to True Genetic disease Inferred relationship Some 2
Maturity-onset diabetes of the young, type 6 (disorder) Due to True Genetic disease Inferred relationship Some 2
Maturity-onset diabetes of the young, type 7 Due to True Genetic disease Inferred relationship Some 2
Maturity-onset diabetes of the young, type 8 (disorder) Due to True Genetic disease Inferred relationship Some 2
Maturity-onset diabetes of the young, type 9 Due to True Genetic disease Inferred relationship Some 2
Maturity-onset diabetes of the young, type 10 (disorder) Due to True Genetic disease Inferred relationship Some 2
Maturity-onset diabetes of the young, type 11 Due to True Genetic disease Inferred relationship Some 2
Diabetes mellitus, transient neonatal 1 Due to True Genetic disease Inferred relationship Some 4
Diabetes mellitus, transient neonatal 2 (disorder) Due to True Genetic disease Inferred relationship Some 4
Diabetes mellitus, transient neonatal 3 (disorder) Due to True Genetic disease Inferred relationship Some 4
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) Due to True Genetic disease Inferred relationship Some 2
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Due to True Genetic disease Inferred relationship Some 5
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Due to True Genetic disease Inferred relationship Some 5

Start Previous Page 3 of 4 End

This concept is not in any reference sets

Back to Start