66091009: Congenital disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Fetal and/or neonatal disorder\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	Is a	Disease	false	Inferred relationship	Some
Congenital disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital disease	Is a	Fetal and/or neonatal disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Talipes (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Occipital meningocele (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Right-sided pulmonary arterial trunk	Is a	False	Congenital disease	Inferred relationship	Some
Congenital functional disorders of the small intestine	Is a	True	Congenital disease	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	Is a	True	Congenital disease	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	False	Congenital disease	Inferred relationship	Some
Solitary aortic trunk with pulmonary atresia	Is a	False	Congenital disease	Inferred relationship	Some
Congenital brain damage	Is a	True	Congenital disease	Inferred relationship	Some
Spleen in right sided position (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital claw toe	Is a	False	Congenital disease	Inferred relationship	Some
Congenital peripheral aneurysm	Is a	False	Congenital disease	Inferred relationship	Some
Vitamin D-dependent rickets, type 1	Is a	True	Congenital disease	Inferred relationship	Some
Myostatin related hypertrophy of muscle	Is a	False	Congenital disease	Inferred relationship	Some
Congenital atrophy of left lobe of liver	Is a	True	Congenital disease	Inferred relationship	Some
Truncal valve dysplasia	Is a	False	Congenital disease	Inferred relationship	Some
Congenital vascular disorder (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Tripartite right ventricle (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital conduction defect	Is a	False	Congenital disease	Inferred relationship	Some
Pericarditis secondary to Mulibrey nanism (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Abnormal root proximity between adjacent teeth	Is a	False	Congenital disease	Inferred relationship	Some
Congenital disorder of gallbladder and biliary tract	Is a	True	Congenital disease	Inferred relationship	Some
Posterior deviation of infundibular septum of obstructive aortic arch type (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Pulmonary valve overriding ventricular septum (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Stomach in right sided position (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Stomach in central position (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Primary endocardial fibroelastosis of left ventricle	Is a	False	Congenital disease	Inferred relationship	Some
Unipartite right ventricle (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Truncal valve overriding ventricular septum (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital volvulus of stomach	Is a	False	Congenital disease	Inferred relationship	Some
Congenital contracture of toe joint	Is a	False	Congenital disease	Inferred relationship	Some
Congenital kyphosis	Is a	False	Congenital disease	Inferred relationship	Some
Obstructed interchordal space of tricuspid chordae tendinae (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Right inferior vena cava connecting to left atrium and right atrium (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Is a	False	Congenital disease	Inferred relationship	Some
Prominent valve of inferior vena cava	Is a	False	Congenital disease	Inferred relationship	Some
Congenital hepatomegaly	Is a	False	Congenital disease	Inferred relationship	Some
Right inferior vena cava connecting to left sided atrium (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Endocardial fibroelastosis of right atrium	Is a	False	Congenital disease	Inferred relationship	Some
Right atrial appendage - left - juxtaposition	Is a	False	Congenital disease	Inferred relationship	Some
Supramitral left atrial ring	Is a	False	Congenital disease	Inferred relationship	Some
Right atrial appendage absent	Is a	False	Congenital disease	Inferred relationship	Some
True cleft of common atrioventricular valve leaflet	Is a	False	Congenital disease	Inferred relationship	Some
Patent foramen ovale	Is a	False	Congenital disease	Inferred relationship	Some
Spinal hydromeningocele	Is a	False	Congenital disease	Inferred relationship	Some
Tricuspid valve primary chords absent	Is a	False	Congenital disease	Inferred relationship	Some
Spinal meningocele	Is a	False	Congenital disease	Inferred relationship	Some
Congenital positional plagiocephaly	Is a	False	Congenital disease	Inferred relationship	Some
Congenital renal cyst (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital ischemic atrophy of central nervous system structure	Is a	True	Congenital disease	Inferred relationship	Some
Rudimentary left ventricle	Is a	False	Congenital disease	Inferred relationship	Some
Congenital stenosis	Is a	False	Congenital disease	Inferred relationship	Some
Right ventricular myocardial sinusoids	Is a	False	Congenital disease	Inferred relationship	Some
Congenital fecaliths causing obstruction (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital accessory skin tag	Is a	True	Congenital disease	Inferred relationship	Some
Congenital hydrocele	Is a	False	Congenital disease	Inferred relationship	Some
Preauricular fistula	Is a	False	Congenital disease	Inferred relationship	Some
Congenital pes planus	Is a	False	Congenital disease	Inferred relationship	Some
Congenital valgus deformity of foot	Is a	False	Congenital disease	Inferred relationship	Some
Congenital nephritis	Is a	True	Congenital disease	Inferred relationship	Some
Pseudomonas pyocyaneus congenital infection	Is a	False	Congenital disease	Inferred relationship	Some
Progressive congenital rubella encephalomyelitis	Is a	False	Congenital disease	Inferred relationship	Some
Congenital pancreatic trypsin deficiency	Is a	True	Congenital disease	Inferred relationship	Some
Congenital nephrotic syndrome	Is a	False	Congenital disease	Inferred relationship	Some
Congenital hernia of urinary bladder (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital functional disorders of the colon	Is a	True	Congenital disease	Inferred relationship	Some
Biotin-thiamine-responsive basal ganglia disease (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Cap myopathy	Is a	True	Congenital disease	Inferred relationship	Some
Congenital rectal fissure (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Multiple supernumerary teeth unrelated to systemic condition	Is a	False	Congenital disease	Inferred relationship	Some
Congenital single renal cyst (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Dental midlines coincident and incorrect	Is a	False	Congenital disease	Inferred relationship	Some
Congenital anal fissure (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
perte en longueur de l'arcade dentaire causée par l'absence congénitale de dents	Is a	False	Congenital disease	Inferred relationship	Some
Congenital pulmonary alveolar proteinosis (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital plagiocephaly with pelvic obliquity (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Allantoic cyst	Is a	False	Congenital disease	Inferred relationship	Some
Redundant prepuce	Is a	False	Congenital disease	Inferred relationship	Some
Congenital hydrosalpinx	Is a	False	Congenital disease	Inferred relationship	Some
Congenital blepharophimosis of lower eyelid	Is a	False	Congenital disease	Inferred relationship	Some
Congenital blepharophimosis of upper eyelid	Is a	False	Congenital disease	Inferred relationship	Some
Longitudinal deficiency of limb	Is a	False	Congenital disease	Inferred relationship	Some
Congenital skin contracture	Is a	False	Congenital disease	Inferred relationship	Some
Congenital laryngeal adductor palsy (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital laryngeal abductor palsy	Is a	True	Congenital disease	Inferred relationship	Some
Ectopic bone tissue, congenital	Is a	True	Congenital disease	Inferred relationship	Some
Generalized congenital intestinal dysmotility (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital palato-oesophageal incoordination	Is a	True	Congenital disease	Inferred relationship	Some
Arthrogryposis	Is a	False	Congenital disease	Inferred relationship	Some
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Is a	False	Congenital disease	Inferred relationship	Some
Congenital viral hepatitis	Is a	False	Congenital disease	Inferred relationship	Some
Congenital glaucoma	Is a	True	Congenital disease	Inferred relationship	Some
Congenital pseudostrabismus	Is a	True	Congenital disease	Inferred relationship	Some
Congenital melanocytic naevus of trunk	Is a	False	Congenital disease	Inferred relationship	Some
Congenital calcium pyrophosphate dihydrate crystal deposition disease	Is a	True	Congenital disease	Inferred relationship	Some
Congenital uraemia	Is a	True	Congenital disease	Inferred relationship	Some
Congenital pseudoporencephaly	Is a	True	Congenital disease	Inferred relationship	Some
A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.	Is a	False	Congenital disease	Inferred relationship	Some
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.	Is a	False	Congenital disease	Inferred relationship	Some
A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).	Is a	True	Congenital disease	Inferred relationship	Some
A rare hemorrhagic disorder due to a constitutional hemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.	Is a	True	Congenital disease	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
109766011	Congenital disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500308011	Congenital disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
805666017	Congenital disease (disorder)	en	Fully specified name	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 Switzerland NRC maintained Module
10211000188115	pathologie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module