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

782964007: genetische aandoening (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease

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

Descriptions:

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	True	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	True	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	True	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	True	Genetic disease	Inferred relationship	Some
Early-onset obesity, hyperphagia, severe developmental delay syndrome	Is a	True	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	True	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	True	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	True	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	True	Genetic disease	Inferred relationship	Some
Combined immunodeficiency due to RELA haploinsufficiency (disorder)	Is a	True	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	True	Genetic disease	Inferred relationship	Some
PAPASH syndrome	Is a	True	Genetic disease	Inferred relationship	Some
Complicated diabetes-deafness syndrome maternally inherited (disorder)	Associated with	True	Genetic disease	Inferred relationship	Some	2
Witteveen-Kolk-syndroom	Is a	False	Genetic disease	Inferred relationship	Some
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Is a	False	Genetic disease	Inferred relationship	Some
Telomere biology disorder (disorder)	Is a	True	Genetic disease	Inferred relationship	Some

Start Previous Page 3 of 3

This concept is not in any reference sets

Back to Start

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
10670171000146117	genetische aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10670181000146115	genetische aandoening (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10670191000146118	genetische ziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)