66091009: Congenital disease (disorder)

SNOMED CT Concept\constatation clinique\Disease\Congenital disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital disease	est un(e) (attribut)	Disease	true	Inferred relationship	Some
Congenital disease	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
FH: Congenital anomaly NOS	constatation associée (attribut)	False	Congenital disease	Inferred relationship	Some	1
Congenital instability of hip joint	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital nephrotic syndrome due to diffuse mesangial sclerosis (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital nephrotic syndrome with focal glomerulosclerosis	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital nephrotic syndrome due to congenital infection (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
diarrhée chronique congénitale avec entéropathie exsudative	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital osteodystrophy	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
spondylolisthésis congénital	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Partial defect of ulna	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital bowing of long bone (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital glenoid dysplasia (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital abnormal shape of arch of cervical vertebra	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Frontal bossing	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Pacman dysplasia (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Inherited congenital spastic tetraplegia	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal dominant secondary polycythemia (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital stenosis of nasal pyriform aperture (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital stenosis of intestinal tract	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital stenosis of eustachian tube	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital hourglass stomach	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital stenosis of large intestine (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital stenosis of external auditory canal	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital sacral meningocele	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Familial congenital mirror movements	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Amyotonia congenita	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital failure of eye elevation	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
hypotonie congénitale bénigne	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital non-progressive ataxia	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital central hypoventilation	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
PPM-X syndrome	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Generalized glucocorticoid resistance syndrome (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hyperlipoproteinemia, type I	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Hereditary adrenal unresponsiveness to corticotropin	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hereditary nephrogenic diabetes insipidus	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
X-linked intellectual disability Van Esch type (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Syndromic X-linked intellectual disability type 7 (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Growth delay due to insulin-like growth factor type 1 deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Pyridoxal 5-phosphate dependent epilepsy (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hyperinsulinism due to deficiency of glucokinase (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hyperinsulinism and hyperammonemia syndrome (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Isolated follicle stimulating hormone deficiency	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hypomagnesemia with secondary hypocalcemia (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Homozygous methylenetetrahydrofolate reductase mutation	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
2-hydroxyglutaric aciduria	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Renal tubular dysgenesis caused by drug	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Retinal hemangioblastomatosis	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital teratoma of nasopharynx (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Fibrous dysplasia of bone	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital pigmented melanocytic nevus (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Neurocutaneous syndrome	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Legius syndrome	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Lipoma due to neurospinal dysraphism	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital diffuse lipomatosis	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital chondrolysis	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital epignathus (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Encephalocraniocutaneous lipomatosis	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital talipes equinovarus	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease type 2	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Segmental lymphangiomatosis (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Systemic lymphangiomatosis	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Autosomal dominant sideroblastic anemia (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Hereditary congenital prekallikrein deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital infection caused by Lymphocytic choriomeningitis virus	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Natal tooth	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
X-linked corneal dermoid (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
X-linked neurodegenerative syndrome Bertini type (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Isolated generalized anhidrosis with normal sweat glands	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Non-syndromic mitochondrial sensorineural deafness (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Nemaline myopathy, early onset type	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital palsy of trochlear nerve (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital oculomotor nerve palsy (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital horizontal gaze palsy (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Isolated congenital horizontal gaze paresis	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital monocular elevator palsy (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	est un(e) (attribut)	True	Congenital disease	Inferred relationship	Some
Congenital meningocele	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Myofibromatosis	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital malformation of tongue, mouth and pharynx	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital functional disorders of the small intestine	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of the thymus	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
anomalie congénitale d'une glande endocrine	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital anomaly of limb	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Abnormal umbilical cord	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some
Congenital and developmental myasthenia	est un(e) (attribut)	False	Congenital disease	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
10211000188115	pathologie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
109766011	Congenital disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3921000077116	maladie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
500308011	Congenital disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
660561000077119	maladie congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
805666017	Congenital disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core