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782964007: Genetic disease (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3756960017 Genetic disease en Synonym Active Entire term case insensitive SNOMED CT core module
3756961018 Genetic disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4868 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease Is a Disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital generalized hypercontractile muscle stiffness syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Intermediate epidermolysis bullosa simplex with cardiomyopathy Due to True Genetic disease Inferred relationship Existential restriction modifier 3
Oral-facial-digital syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Hypogonadism with anosmia Is a True Genetic disease Inferred relationship Existential restriction modifier
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Genetic disease Inferred relationship Existential restriction modifier
Metopic ridging, ptosis, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Tubulinopathy-associated dysgyria Is a True Genetic disease Inferred relationship Existential restriction modifier
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Clear cell sarcoma of kidney Is a True Genetic disease Inferred relationship Existential restriction modifier
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Associated with True Genetic disease Inferred relationship Existential restriction modifier 5
Hallermann Streiff like syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Nemaline myopathy Is a True Genetic disease Inferred relationship Existential restriction modifier
Multiple paraganglioma associated with polycythemia Is a True Genetic disease Inferred relationship Existential restriction modifier
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia Is a True Genetic disease Inferred relationship Existential restriction modifier
Hyaline fibromatosis syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier 3
Proximal myopathy with focal depletion of mitochondria Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital myopathy with fiber type disproportion Is a True Genetic disease Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 6 Is a True Genetic disease Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 7 Is a True Genetic disease Inferred relationship Existential restriction modifier
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Fryns Smeets Thiry syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Special AT-rich sequence-binding protein 2-associated syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a False Genetic disease Inferred relationship Existential restriction modifier
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Joint contractures, developmental delay, Pierre Robin syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Mandibulofacial dysostosis with alopecia Is a True Genetic disease Inferred relationship Existential restriction modifier
Diaphragmatic hernia, short bowel, asplenia syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital fibrosis syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Ring finger protein 13-related severe early-onset epileptic encephalopathy Is a True Genetic disease Inferred relationship Existential restriction modifier
Pancreatic agenesis, holoprosencephaly syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Ephrin receptor B4-related lymphatic-related hydrops fetalis Is a True Genetic disease Inferred relationship Existential restriction modifier
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis Is a True Genetic disease Inferred relationship Existential restriction modifier
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital primary lymphedema of Gordon Is a True Genetic disease Inferred relationship Existential restriction modifier
Gap junction protein gamma 2-related late-onset primary lymphedema Is a True Genetic disease Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type 8 Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital secretory diarrhea, sodium type Is a True Genetic disease Inferred relationship Existential restriction modifier
17q24.2 microdeletion syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
9q21.13 microdeletion syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
19p13.3 microduplication syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
20q11.2 microdeletion syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Prader-Willi-like syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Timothy syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Femur fibula ulna complex Is a True Genetic disease Inferred relationship Existential restriction modifier
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Microphthalmia, microtia, fetal akinesia syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Non-syndromic metopic craniosynostosis Is a True Genetic disease Inferred relationship Existential restriction modifier
Familial isolated retinal arterial tortuosity Is a True Genetic disease Inferred relationship Existential restriction modifier
Myosin heavy chain 9 non muscle related disease Is a True Genetic disease Inferred relationship Existential restriction modifier
Monogenic autoinflammatory syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Ovotesticular disorder of sex development Is a True Genetic disease Inferred relationship Existential restriction modifier
Night blindness, skeletal anomalies, dysmorphism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Exercise-induced malignant hyperthermia Is a True Genetic disease Inferred relationship Existential restriction modifier
Aprosencephaly cerebellar dysgenesis Is a True Genetic disease Inferred relationship Existential restriction modifier
Symptomatic form of Coffin-Lowry syndrome in female carrier Is a True Genetic disease Inferred relationship Existential restriction modifier
Coffin-Lowry syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Lamb Shaffer syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Genetic disorder of skin pigmentation Is a True Genetic disease Inferred relationship Existential restriction modifier
Ichthyosis hystrix Is a True Genetic disease Inferred relationship Existential restriction modifier
X-linked myotubular myopathy, abnormal genitalia syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Baraitser Winter cerebrofrontofacial syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Weismann Netter syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Menke Hennekam syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Dementia due to genetic disease Due to True Genetic disease Inferred relationship Existential restriction modifier 3
Genetic non-syndromic obesity Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder Is a True Genetic disease Inferred relationship Existential restriction modifier
Non-syndromic genetic hearing loss Is a True Genetic disease Inferred relationship Existential restriction modifier
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Is a True Genetic disease Inferred relationship Existential restriction modifier
Large congenital pigmented melanocytic nevus of skin Is a True Genetic disease Inferred relationship Existential restriction modifier
Adult vitelliform macular dystrophy Is a True Genetic disease Inferred relationship Existential restriction modifier

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