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363137000: hereditaire aandoening per systeem (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system

\Disorder of body system\Hereditary disorder by system

Status: current, 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
Hereditary disorder by system	Is a	Hereditary disease	true	Inferred relationship	Some
Hereditary disorder by system	Is a	Disorder of body system	true	Inferred relationship	Some
Hereditary disorder by system	Finding site	Body system structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kerasin thesaurismosis (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Hereditary fructosuria	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Inborn error of metabolism	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Auditory system hereditary disorder	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Cardiovascular system hereditary disorder	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Digestive system hereditary disorder (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of endocrine system (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of hematologic system	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of immune system	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of the integument	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of lymphatic system (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of musculoskeletal system	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of nervous system	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Reproductive system hereditary disorder	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of the urinary system	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of the visual system (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Essential benign fructosuria	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Connective tissue hereditary disorder (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Pulmonary lipid storage disease	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Hereditary disorder of cellular element of blood (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Pseudo von Willebrand disease	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Hereditary coagulation factor deficiency	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Hereditary factor IX deficiency disease	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Familial hemorrhagic diathesis	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Hereditary hypoplasminogenemia	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Hereditary dysplasminogenemia	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Storage disease of the lung	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Familial cancer of breast	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Hand-foot-genital syndrome	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Nakajo-Nishimura syndrome	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Pulmonary interstitial glycogenosis	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Albinism co-occurrent with hematologic disorder (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Familial spontaneous pneumothorax (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Bilateral multiple fibroadenoma of breast (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Adult-onset autosomal recessive sideroblastic anemia (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Familial isolated congenital asplenia (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
splenomegalie gelijktijdig met en door stapelingsziekte	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Classical cystic fibrosis (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Atypical cystic fibrosis (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Subclinical cystic fibrosis	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Insulin resistance - type A	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Inherited acute myeloid leukemia (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Familial juvenile hypertrophy of the breast	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Corticosteroid-binding globulin deficiency (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Familial isolated hyperparathyroidism (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Familial nonmedullary primary thyroid carcinoma (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
BSG syndrome	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Pseudohypoparathyroidism type 1C (disorder)	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Inherited mucociliary clearance defect	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Syndrome of apparent mineralocorticoid excess	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Emberger syndrome	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Interstitial lung disease due to surfactant protein C deficiency (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Heme oxygenase-1 deficiency (disorder)	Is a	True	Hereditary disorder by system	Inferred relationship	Some
Photoptarmosis	Is a	True	Hereditary disorder by system	Inferred relationship	Some
autosomaal dominante familiaire geïsoleerde hypoparathyreoïdie	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Deficiency of interleukin-1 receptor antagonist	Is a	False	Hereditary disorder by system	Inferred relationship	Some
autosomaal recessieve familiaire geïsoleerde hypoparathyreoïdie	Is a	False	Hereditary disorder by system	Inferred relationship	Some
Myeloid neoplasm with germline predisposition	Is a	True	Hereditary disorder by system	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

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Id	Description	Lang	Type	Status	Case?	Module
482274012	Hereditary disorder by system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754927014	Hereditary disorder by system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6477951000146118	hereditaire aandoening per systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6477961000146115	hereditaire aandoening per systeem (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6477971000146114	erfelijke ziekte per systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)