FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

782964007: Genetic disease (disorder)

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

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

4865 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
Congenital generalised hypercontractile muscle stiffness syndrome Is a True Genetic disease Inferred relationship Some
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Is a True Genetic disease Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Is a True Genetic disease Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Is a True Genetic disease Inferred relationship Some
Intermediate epidermolysis bullosa simplex with cardiomyopathy Due to True Genetic disease Inferred relationship Some 3
Oral-facial-digital syndrome Is a True Genetic disease Inferred relationship Some
Hypogonadism with anosmia Is a True Genetic disease Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Genetic disease Inferred relationship Some
Metopic ridging, ptosis, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
DYRK1A-related intellectual disability syndrome Is a True Genetic disease Inferred relationship Some
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a True Genetic disease Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Is a True Genetic disease Inferred relationship Some
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Is a True Genetic disease Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Genetic disease Inferred relationship Some
Tubulinopathy-associated dysgyria Is a True Genetic disease Inferred relationship Some
WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome Is a True Genetic disease Inferred relationship Some
Clear cell sarcoma of kidney Is a True Genetic disease Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Associated with True Genetic disease Inferred relationship Some 5
Hallermann Streiff like syndrome Is a True Genetic disease Inferred relationship Some
Nemaline myopathy Is a True Genetic disease Inferred relationship Some
Multiple paraganglioma associated with polycythaemia Is a True Genetic disease Inferred relationship Some
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia Is a True Genetic disease Inferred relationship Some
Hyaline fibromatosis syndrome Is a True Genetic disease Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Associated with True Genetic disease Inferred relationship Some 3
Proximal myopathy with focal depletion of mitochondria Is a True Genetic disease Inferred relationship Some
Congenital myopathy with fibre type disproportion Is a True Genetic disease Inferred relationship Some
Amyotrophic lateral sclerosis type 6 Is a True Genetic disease Inferred relationship Some
Amyotrophic lateral sclerosis type 7 Is a True Genetic disease Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a True Genetic disease Inferred relationship Some
Fryns Smeets Thiry syndrome Is a True Genetic disease Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a True Genetic disease Inferred relationship Some
SATB2-associated syndrome Is a True Genetic disease Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a True Genetic disease Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a False Genetic disease Inferred relationship Some
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Is a True Genetic disease Inferred relationship Some
Joint contractures, developmental delay, Pierre Robin syndrome Is a True Genetic disease Inferred relationship Some
Mandibulofacial dysostosis with alopecia Is a True Genetic disease Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome Is a True Genetic disease Inferred relationship Some
Congenital fibrosis syndrome Is a True Genetic disease Inferred relationship Some
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Is a True Genetic disease Inferred relationship Some
RNF13-related severe early-onset epileptic encephalopathy Is a True Genetic disease Inferred relationship Some
Pancreatic agenesis, holoprosencephaly syndrome Is a True Genetic disease Inferred relationship Some
EPHB4-related lymphatic-related hydrops fetalis Is a True Genetic disease Inferred relationship Some
PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis Is a True Genetic disease Inferred relationship Some
CELSR1-related late-onset primary lymphoedema Is a True Genetic disease Inferred relationship Some
Congenital primary lymphoedema of Gordon Is a True Genetic disease Inferred relationship Some
GJC2-related late-onset primary lymphoedema Is a True Genetic disease Inferred relationship Some
3-methylglutaconic aciduria type 8 Is a True Genetic disease Inferred relationship Some
Congenital secretory diarrhoea, sodium type Is a True Genetic disease Inferred relationship Some
17q24.2 microdeletion syndrome Is a True Genetic disease Inferred relationship Some
9q21.13 microdeletion syndrome Is a True Genetic disease Inferred relationship Some
19p13.3 microduplication syndrome Is a True Genetic disease Inferred relationship Some
20q11.2 microdeletion syndrome Is a True Genetic disease Inferred relationship Some
Prader-Willi-like syndrome Is a True Genetic disease Inferred relationship Some
Timothy syndrome Is a True Genetic disease Inferred relationship Some
Femur fibula ulna complex Is a True Genetic disease Inferred relationship Some
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome Is a True Genetic disease Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a True Genetic disease Inferred relationship Some
Non-syndromic metopic craniosynostosis Is a True Genetic disease Inferred relationship Some
Familial isolated retinal arterial tortuosity Is a True Genetic disease Inferred relationship Some
MYH9 related disease Is a True Genetic disease Inferred relationship Some
Monogenic autoinflammatory syndrome Is a False Genetic disease Inferred relationship Some
Ovotesticular disorder of sex development Is a True Genetic disease Inferred relationship Some
Night blindness, skeletal anomalies, dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
Exercise-induced malignant hyperthermia Is a True Genetic disease Inferred relationship Some
Aprosencephaly cerebellar dysgenesis Is a True Genetic disease Inferred relationship Some
Symptomatic form of Coffin-Lowry syndrome in female carrier Is a True Genetic disease Inferred relationship Some
Coffin-Lowry syndrome Is a True Genetic disease Inferred relationship Some
Lamb Shaffer syndrome Is a True Genetic disease Inferred relationship Some
Genetic disorder of skin pigmentation Is a True Genetic disease Inferred relationship Some
Ichthyosis hystrix Is a True Genetic disease Inferred relationship Some
X-linked myotubular myopathy, abnormal genitalia syndrome Is a True Genetic disease Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Genetic disease Inferred relationship Some
Baraitser Winter cerebrofrontofacial syndrome Is a True Genetic disease Inferred relationship Some
Weismann Netter syndrome Is a True Genetic disease Inferred relationship Some
Menke Hennekam syndrome Is a True Genetic disease Inferred relationship Some
Dementia due to genetic disease Due to True Genetic disease Inferred relationship Some 3
Genetic non-syndromic obesity Is a True Genetic disease Inferred relationship Some
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome Is a True Genetic disease Inferred relationship Some
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder Is a True Genetic disease Inferred relationship Some
Non-syndromic genetic hearing loss Is a True Genetic disease Inferred relationship Some
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Is a True Genetic disease Inferred relationship Some
Large congenital pigmented melanocytic naevus of skin Is a True Genetic disease Inferred relationship Some
Adult vitelliform macular dystrophy Is a True Genetic disease Inferred relationship Some

Start Page 2 of 2

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start