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
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	Is a	False	Congenital disease	Inferred relationship	Some
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	Is a	False	Congenital disease	Inferred relationship	Some
Xeroderma, talipes and enamel defect syndrome (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital pes cavus	Is a	False	Congenital disease	Inferred relationship	Some
Congenital varus deformity of foot	Is a	False	Congenital disease	Inferred relationship	Some
Congenital obstruction of ureteral orifice	Is a	False	Congenital disease	Inferred relationship	Some
Epidermoid cyst of spleen	Is a	False	Congenital disease	Inferred relationship	Some
Congenital talipes equinus	Is a	False	Congenital disease	Inferred relationship	Some
Congenital talipes calcaneus	Is a	False	Congenital disease	Inferred relationship	Some
Congenital vertical talus (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital positional talipes (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital talipes calcaneovalgus	Is a	False	Congenital disease	Inferred relationship	Some
Reticulate acropigmentation of Kitamura	Is a	True	Congenital disease	Inferred relationship	Some
Hereditary factor IX deficiency disease	Is a	True	Congenital disease	Inferred relationship	Some
Hereditary factor XI deficiency disease	Is a	True	Congenital disease	Inferred relationship	Some
Congenital forefoot varus	Is a	False	Congenital disease	Inferred relationship	Some
Congenital rearfoot varus (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital melanosis	Is a	True	Congenital disease	Inferred relationship	Some
Cor biloculare	Is a	False	Congenital disease	Inferred relationship	Some
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital instability of hip joint	Is a	True	Congenital disease	Inferred relationship	Some
Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital nephrotic syndrome with focal glomerulosclerosis	Is a	True	Congenital disease	Inferred relationship	Some
Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B).	Is a	True	Congenital disease	Inferred relationship	Some
Congenital chronic diarrhoea with protein-losing enteropathy is a rare, genetic, intestinal disease characterised by early-onset, chronic, non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital osteodystrophy	Is a	True	Congenital disease	Inferred relationship	Some
Congenital spondylolisthesis	Is a	False	Congenital disease	Inferred relationship	Some
Partial defect of ulna	Is a	False	Congenital disease	Inferred relationship	Some
Congenital bowing of long bone (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	False	Congenital disease	Inferred relationship	Some
Congenital abnormal shape of arch of cervical vertebra	Is a	False	Congenital disease	Inferred relationship	Some
Frontal bossing	Is a	False	Congenital disease	Inferred relationship	Some
A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.	Is a	True	Congenital disease	Inferred relationship	Some
A rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.	Is a	False	Congenital disease	Inferred relationship	Some
Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.	Is a	True	Congenital disease	Inferred relationship	Some
A rare, genetic, haematologic disease characterised by increased levels of serum haemoglobin, haematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.	Is a	True	Congenital disease	Inferred relationship	Some
A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital stenosis of nasal pyriform aperture (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract	Is a	False	Congenital disease	Inferred relationship	Some
Congenital stenosis of intestinal tract	Is a	False	Congenital disease	Inferred relationship	Some
Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis	Is a	False	Congenital disease	Inferred relationship	Some
Congenital stenosis of eustachian tube	Is a	False	Congenital disease	Inferred relationship	Some
Congenital hourglass stomach	Is a	False	Congenital disease	Inferred relationship	Some
A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital stenosis of large intestine (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Congenital stenosis of external auditory canal	Is a	False	Congenital disease	Inferred relationship	Some
Congenital sacral meningocele	Is a	False	Congenital disease	Inferred relationship	Some
A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.	Is a	True	Congenital disease	Inferred relationship	Some
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).	Is a	False	Congenital disease	Inferred relationship	Some
Amyotonia congenita	Is a	True	Congenital disease	Inferred relationship	Some
Congenital failure of eye elevation	Is a	True	Congenital disease	Inferred relationship	Some
Benign congenital hypotonia	Is a	True	Congenital disease	Inferred relationship	Some
Congenital non-progressive ataxia	Is a	True	Congenital disease	Inferred relationship	Some
Congenital central hypoventilation	Is a	True	Congenital disease	Inferred relationship	Some
PPM-X syndrome	Is a	False	Congenital disease	Inferred relationship	Some
Generalized glucocorticoid resistance syndrome (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Hyperlipoproteinemia, type I	Is a	False	Congenital disease	Inferred relationship	Some
Hereditary adrenal unresponsiveness to corticotropin	Is a	True	Congenital disease	Inferred relationship	Some
diabète insipide néphrogénique héréditaire	Is a	False	Congenital disease	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge.	Is a	True	Congenital disease	Inferred relationship	Some
A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.	Is a	True	Congenital disease	Inferred relationship	Some
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.	Is a	False	Congenital disease	Inferred relationship	Some
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life.	Is a	False	Congenital disease	Inferred relationship	Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.	Is a	True	Congenital disease	Inferred relationship	Some
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	Is a	False	Congenital disease	Inferred relationship	Some
Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.	Is a	True	Congenital disease	Inferred relationship	Some
Pyridoxal 5-phosphate dependent epilepsy (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.	Is a	True	Congenital disease	Inferred relationship	Some
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).	Is a	False	Congenital disease	Inferred relationship	Some
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.	Is a	True	Congenital disease	Inferred relationship	Some
A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment.	Is a	False	Congenital disease	Inferred relationship	Some
Isolated follicle stimulating hormone deficiency	Is a	True	Congenital disease	Inferred relationship	Some
Hypomagnesemia with secondary hypocalcemia (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Homozygous methylenetetrahydrofolate reductase mutation	Is a	True	Congenital disease	Inferred relationship	Some
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.	Is a	True	Congenital disease	Inferred relationship	Some
A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.	Is a	True	Congenital disease	Inferred relationship	Some
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.	Is a	False	Congenital disease	Inferred relationship	Some
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.	Is a	False	Congenital disease	Inferred relationship	Some
2-hydroxyglutaric aciduria	Is a	True	Congenital disease	Inferred relationship	Some
Renal tubular dysgenesis caused by drug	Is a	False	Congenital disease	Inferred relationship	Some
Retinal hemangioblastomatosis	Is a	True	Congenital disease	Inferred relationship	Some
Congenital teratoma of nasopharynx (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Fibrous dysplasia of bone	Is a	True	Congenital disease	Inferred relationship	Some
Congenital pigmented melanocytic nevus (disorder)	Is a	False	Congenital disease	Inferred relationship	Some
Neurocutaneous syndrome	Is a	True	Congenital disease	Inferred relationship	Some
Legius syndrome	Is a	True	Congenital disease	Inferred relationship	Some
Lipoma due to neurospinal dysraphism	Is a	True	Congenital disease	Inferred relationship	Some
Congenital diffuse lipomatosis	Is a	True	Congenital disease	Inferred relationship	Some
Congenital chondrolysis	Is a	True	Congenital disease	Inferred relationship	Some
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations including dyspnoea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties). When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.	Is a	True	Congenital disease	Inferred relationship	Some
Encephalocraniocutaneous lipomatosis (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Congenital talipes equinovarus	Is a	True	Congenital disease	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease type 2	Is a	False	Congenital disease	Inferred relationship	Some
Segmental lymphangiomatosis (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
Systemic lymphangiomatosis	Is a	True	Congenital disease	Inferred relationship	Some
Autosomal dominant sideroblastic anemia (disorder)	Is a	True	Congenital disease	Inferred relationship	Some
A rare genetic coagulation disorder characterised by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischaemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.	Is a	True	Congenital disease	Inferred relationship	Some
Congenital infection caused by Lymphocytic choriomeningitis virus	Is a	True	Congenital disease	Inferred relationship	Some
Natal tooth	Is a	True	Congenital disease	Inferred relationship	Some
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.	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