32895009: Hereditary disease (disorder)

SNOMED CT Concept\constatation clinique\Disease\Genetic disease\maladie héréditaire

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
maladie héréditaire	est un(e) (attribut)	Genetic disease	true	Inferred relationship	Some
maladie héréditaire	est un(e) (attribut)	Disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
déficience intellectuelle non syndromique rare	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
syndrome génétique	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Chronic granulomatous disease (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Inherited arthrogryposis	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Hereditary hypertyrosinemia	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
hémochromatose héréditaire (trouble)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Hereditary thrombophilia (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
xanthinurie héréditaire (trouble)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Inherited disorder of porphyrin metabolism (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Hereditary angioedema	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Sea-blue histiocyte syndrome	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Hereditary iron deficiency anemia	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Mendelian susceptibility to mycobacterial disease	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Thymidine kinase 2 deficiency	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
affection héréditaire du tissu conjonctif	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Autosomal hereditary disorder	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Sequelae of hereditary diseases	Temporally follows	False	maladie héréditaire	Inferred relationship	Some
Genetic counselling	a pour objet (attribut)	True	maladie héréditaire	Inferred relationship	Some	2
Hereditary retinal dystrophy	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Inborn error of metabolism	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Sequelae of hereditary diseases	After	True	maladie héréditaire	Inferred relationship	Some	1
Congenital elliptocytosis	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Familial erythrocytosis	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Hereditary choroidal dystrophy	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
thalassémie	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Citrullinemia (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
troubles héréditaires polygéniques	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Hereditary acanthocytosis	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Sex-linked hereditary disorder	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Connective tissue hereditary disorder	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Developmental hereditary disorder	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Hereditary disorder by system	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Inflammatory hereditary disorder	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Mendelian disorders	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Metabolic hereditary disorder	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
lymphœdème héréditaire	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Family history of hereditary disease (situation)	constatation associée (attribut)	False	maladie héréditaire	Inferred relationship	Some	1
anomalie plaquettaire héréditaire	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Hereditary hypoplasminogenemia	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Hereditary dysplasminogenemia	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
maladie héréditaire de la plaque motrice	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Hereditary coagulation factor deficiency	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Familial hemorrhagic diathesis	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Family history of hereditary disease (situation)	constatation associée (attribut)	True	maladie héréditaire	Inferred relationship	Some	1
Hereditary pancreatitis	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Familial Mediterranean fever	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Family history of hereditary disease (situation)	constatation associée (attribut)	False	maladie héréditaire	Inferred relationship	Some	1
Fetus with hereditary disease	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Inherited aminoaciduria	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
syndrome familial avec prédisposition aux cancers (trouble)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Suspected hereditary disease	constatation associée (attribut)	True	maladie héréditaire	Inferred relationship	Some	1
Genetic counseling for heritable disorder with patient at risk	a pour objet (attribut)	True	maladie héréditaire	Inferred relationship	Some	1
Genetic counseling for heritable disorder with fetus at risk	a pour objet (attribut)	True	maladie héréditaire	Inferred relationship	Some	2
Congenital vascular malformation due to inherited syndrome (disorder)	Due to	True	maladie héréditaire	Inferred relationship	Some	2
anémie dysérythropoïétique congénitale (trouble)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Gingival disease due to genetic disorder (disorder)	Due to	True	maladie héréditaire	Inferred relationship	Some	1
Connective tissue hereditary disorder	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Syndactyly of fingers type 8 (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Growth delay due to insulin-like growth factor I resistance (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Postaxial polydactyly type A (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Postaxial polydactyly type B (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Obesity due to melanocortin 4 receptor deficiency (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Familial thyroglossal duct cyst (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Inherited predisposition to essential thrombocythemia (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Atypical Rett syndrome (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Tetraamelia with multiple malformation syndrome (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Dianzani autoimmune lymphoproliferative disease (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Blepharonasofacial malformation syndrome (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Severe congenital hypochromic anemia with ringed sideroblasts (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Monogenic autoinflammatory syndrome (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
syndrome marfanoïde type de Silva	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Non-androgenic hypertrichosis co-occurrent and due to genetic disease (disorder)	Due to	True	maladie héréditaire	Inferred relationship	Some	2
Hereditary amyloidosis (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Hereditary vitamin B12 deficiency anemia (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Hereditary folate deficiency anemia (disorder)	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Family history of heritable malignancy (situation)	constatation associée (attribut)	True	maladie héréditaire	Inferred relationship	Some	1
syndrome de Kabuki	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Epigenetic disorder	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Familial benign copper deficiency	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some
Craniodigital syndrome and intellectual disability syndrome	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Hereditary ataxia (disorder)	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Malan overgrowth syndrome	est un(e) (attribut)	False	maladie héréditaire	Inferred relationship	Some
Hereditary disease in family possibly affecting fetus	est un(e) (attribut)	True	maladie héréditaire	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3891000077111	maladie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
40021000188114	pathologie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
54901018	Hereditary disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
54905010	Inherited disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660251000077115	maladie héréditaire (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
764232019	Hereditary disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core