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66091009: Congenital disease (disorder)

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

Descriptions:

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
109766011 Congenital disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
500309015 Congenital abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
500310013 Fetal developmental abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
805666017 Congenital disease (disorder) en Fully specified name Active Only initial character 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
3011638011 Foetal developmental abnormality en Synonym (core metadata concept) Active Only initial character 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
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

10200 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disease Is a Disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital disease Is a Disorder of foetus and/or newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
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 Existential restriction modifier (core metadata concept)
Congenital deficiency of alpha-fetoprotein (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined pituitary hormone deficiency genetic form (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea due to glucoamylase deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of part of limb (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital analbuminaemia Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hepatic fibrosis Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Anemia following fetal blood loss Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital folate malabsorption anaemia Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital transferrin deficiency (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deficiency of intrinsic factor Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Biermer's congenital pernicious anemia Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital diverticulitis of small intestine (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Median nodule of upper lip (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lethal erythroderma (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chalasia of oesophagus Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cyst of aryepiglottic fold (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypogonadotropic hypogonadism (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atrophy of optic nerve (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Nephrogenic syndrome of inappropriate antidiuresis (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Pigmented paravenous retinochoroidal atrophy (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleeding, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Myotonia congenita Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital syringomyelia (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Short stature locking fingers syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital secondary hydronephrosis Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dacryocele Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of eyelid (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Dystopia canthorum Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Platelet type pseudo-von Willebrand disease Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Asexual dwarfism Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Platelet storage pool defect Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial anetoderma is an extremely rare genetic skin disease characterised by loss of elastin tissue leading to localised areas of flaccid skin and a family history of the disorder. Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemoglobinopathy (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cyst of orbit (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of endocrine system (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Carney Stratakis syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hydrothorax Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital porencephalic cyst (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of vagina Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of vulva Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of mother complicating pregnancy (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal intestinal perforation co-occurrent and due to in utero intraluminal obstruction (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital thrombocytopaenia Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cardiovascular disorder (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital keratoderma Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis pilaris with ichthyosis and deafness Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosiform erythroderma Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant congenital benign spinal muscular atrophy Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4 Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Combined pancreatic lipase and colipase deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital trigeminal anesthesia (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial nasal acilia Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hypermethioninemia due to deficiency of glycine N-methyltransferase Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hypermethioninaemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterised by persistent hypermethioninaemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycaemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Erythema palmare hereditarium Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Action myoclonus renal failure syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial focal epilepsy with variable foci Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant slowed nerve conduction velocity (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Fundus albipunctatus Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Inherited acute myeloid leukemia (disorder) Associated with True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Striate palmoplantar keratoderma Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Focal palmoplantar and gingival keratoderma (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Muscle filaminopathy Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy with hexagonally cross-linked tubular arrays (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Biallelic RPE65 mutation associated retinal dystrophy Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Spheroid body myopathy (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Rolandic epilepsy, speech dyspraxia syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Kandori fleck retina syndrome (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterised by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cyst of larynx (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Cyanotic congenital heart disease Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic myopathy due to lactate transporter defect (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked non progressive cerebellar ataxia (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)

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