11164009: autosomaal dominante hereditaire aandoening (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hereditary disorder	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
8q24.3 microdeletion syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Duane retraction syndrome with congenital deafness	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
FTH1-related iron overload	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial chondromalacia of patella (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Primary failure of tooth eruption (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Isolated osteopoikilosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Self-limited familial neonatal-infantile epilepsy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Osteofibrous dysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
14q32 duplication syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Prothrombin G20210A mutation (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Arthrochalasia Ehlers-Danlos syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Otodental syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Self-limited familial infantile epilepsy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Sorsby pseudoinflammatory fundus dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hyperaldosteronism type 1	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary distal onycholysis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Diaphyseal medullary stenosis with bone malignancy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Isolated focal non-epidermolytic palmoplantar keratoderma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial gigantiform cementoma of jaw (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Birt Hogg Dubé syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Leri-Weill dyschondrosteosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Nievergelt's syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Neuroferritinopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant osteopetrosis type 1	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hecht syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Long QT syndrome type 9	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Long QT syndrome type 11 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Malignant hyperthermia caused by anesthetic (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial multinodular goiter syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 46 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia type 45 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dystonia 28	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hypocalciuric hypercalcaemia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Triopia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Periodontal Ehlers-Danlos syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial articular hypermobility syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary well-differentiated neuroendocrine tumor of small intestine (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Activated PI3K-delta syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hereditary arginine vasopressin resistance (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hereditary arginine vasopressin deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple endocrine neoplasia, type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Clark Baraitser syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mitchell syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Singleton-Merten syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Solute carrier family 40 member 1-related hemochromatosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ferroportin disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial sleep-related hypermotor epilepsy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Full schwannomatosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cardiac urogenital syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Keratitis fugax hereditaria	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Photoptarmosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Isolated asymmetric crying facies	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Asymmetric crying facies syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant hereditary motor neuron disease (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
PAPA-syndroom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
autosomaal dominante familiaire geïsoleerde hypoparathyreoïdie	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Laing distal myopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
syndroom van myelodysplasie, infectie, groeirestrictie, bijnierhypoplasie, genitale afwijkingen en enteropathie	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Myeloid neoplasm with germline predisposition	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Menke-Hennekam-syndroom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
cathepsine A-gerelateerde arteriopathie met cerebrovasculaire accidenten en leukencefalopathie	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
hereditaire leiomyomatose en niercelcarcinoom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Iron overload related to ferritin heavy chain 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
HTRA1-gerelateerde autosomaal dominante 'cerebral small vessel disease'	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
19337016	Dominant hereditary disorder, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
195344010	Autosomal dominant hereditary disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632967019	Autosomal dominant hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2618831016	AD - Autosomal dominant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6338831000146111	autosomaal dominante hereditaire aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6338841000146115	AD erfelijke aandoening	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6338851000146117	autosomaal dominante hereditaire aandoening (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)