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56246009: Hypertrophy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
93530019 Hypertrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
794737015 Hypertrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231590019 Hypertrophic en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
280341000077112 hypertrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

17 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertrophy Is a Growth alteration true Inferred relationship Some
Hypertrophy Is a Enlargement (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital thickening of ilium Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of ischium Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of pubis Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of radius Associated morphology False Hypertrophy Inferred relationship Some 2
Congenital thickening of rib Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of tarsal bone Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of tibia Associated morphology False Hypertrophy Inferred relationship Some 2
Congenital thickening of radius Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of scapula Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of talus Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of tarsal bone Associated morphology False Hypertrophy Inferred relationship Some 2
Congenital thickening of tibia Associated morphology True Hypertrophy Inferred relationship Some 1
Cardiac septal myectomy (procedure) Direct morphology True Hypertrophy Inferred relationship Some 2
à l'examen : présence d'hypertrophie musculaire Associated morphology False Hypertrophy Inferred relationship Some 1
Skeletal muscle hypertrophy (finding) Associated morphology True Hypertrophy Inferred relationship Some 1
Hemihypertrophy of skeletal muscle (finding) Associated morphology True Hypertrophy Inferred relationship Some 1
Hypertrophy of muscles of mastication (finding) Associated morphology True Hypertrophy Inferred relationship Some 1
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Associated morphology False Hypertrophy Inferred relationship Some 4
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. Associated morphology False Hypertrophy Inferred relationship Some 4
A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. Associated morphology True Hypertrophy Inferred relationship Some 4
Cardiomyopathy and renal anomaly syndrome (disorder) Associated morphology False Hypertrophy Inferred relationship Some 3
Hypertrophic lichen planus of vulva (disorder) Associated morphology True Hypertrophy Inferred relationship Some 2
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Associated morphology False Hypertrophy Inferred relationship Some 5
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Associated morphology False Hypertrophy Inferred relationship Some 8
A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. Associated morphology True Hypertrophy Inferred relationship Some 4
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. Associated morphology False Hypertrophy Inferred relationship Some 5
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Associated morphology False Hypertrophy Inferred relationship Some 2
Paving stone naevus Associated morphology False Hypertrophy Inferred relationship Some 1
Port-wine stain in proteus syndrome (disorder) Associated morphology False Hypertrophy Inferred relationship Some 4
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Associated morphology False Hypertrophy Inferred relationship Some 9
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. Associated morphology True Hypertrophy Inferred relationship Some 1
Hypertrophy of left kidney co-occurrent and due to congenital hypoplasia of right kidney Associated morphology True Hypertrophy Inferred relationship Some 2
Hypertrophy of right kidney co-occurrent and due to congenital hypoplasia of left kidney Associated morphology True Hypertrophy Inferred relationship Some 2
Tetralogy of Fallot with pulmonary stenosis Associated morphology True Hypertrophy Inferred relationship Some 4
Tetralogy of Fallot with absent pulmonary valve (disorder) Associated morphology True Hypertrophy Inferred relationship Some 5
Tetralogy of Fallot with atresia of pulmonary valve (disorder) Associated morphology False Hypertrophy Inferred relationship Some 2
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Associated morphology True Hypertrophy Inferred relationship Some 4
Tetralogy of Fallot Associated morphology False Hypertrophy Inferred relationship Some 4
Ventricular septal defect in Fallot's tetralogy Associated morphology True Hypertrophy Inferred relationship Some 4
Pentalogy of Fallot Associated morphology True Hypertrophy Inferred relationship Some 5
Dextraposition of aorta in Fallot's tetralogy Associated morphology True Hypertrophy Inferred relationship Some 4
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Associated morphology True Hypertrophy Inferred relationship Some 6
Eisenmenger's syndrome (disorder) Associated morphology True Hypertrophy Inferred relationship Some 1
Cheilitis glandularis Associated morphology False Hypertrophy Inferred relationship Some 2
Cheilitis glandularis, deep suppurative type Associated morphology True Hypertrophy Inferred relationship Some 2
Cheilitis glandularis, superficial suppurative type Associated morphology True Hypertrophy Inferred relationship Some 2
Acquired hypertrophy of tongue (disorder) Associated morphology True Hypertrophy Inferred relationship Some 1
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Associated morphology True Hypertrophy Inferred relationship Some 1
A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. Associated morphology True Hypertrophy Inferred relationship Some 1
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Associated morphology True Hypertrophy Inferred relationship Some 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital thickening of clavicle Associated morphology True Hypertrophy Inferred relationship Some 1
Tetralogy of Fallot Associated morphology True Hypertrophy Inferred relationship Some 2
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Associated morphology True Hypertrophy Inferred relationship Some 2
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. Associated morphology True Hypertrophy Inferred relationship Some 2
Cardiomyopathy and renal anomaly syndrome (disorder) Associated morphology True Hypertrophy Inferred relationship Some 1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Associated morphology True Hypertrophy Inferred relationship Some 2
A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. Associated morphology True Hypertrophy Inferred relationship Some 1
Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Associated morphology True Hypertrophy Inferred relationship Some 1
Hypertrophy of bone Associated morphology True Hypertrophy Inferred relationship Some 1
Internal hyperostosis (morphologic abnormality) Is a True Hypertrophy Inferred relationship Some
Bone hypertrophy of right clavicle Associated morphology True Hypertrophy Inferred relationship Some 1
Idiopathic hypertrophy of bone Associated morphology True Hypertrophy Inferred relationship Some 1
Hyperphosphatasemia with bone disease Associated morphology True Hypertrophy Inferred relationship Some 1
Tailor's bunion Associated morphology True Hypertrophy Inferred relationship Some 1
Bone hypertrophy of left clavicle Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital hemihypertrophy Associated morphology True Hypertrophy Inferred relationship Some 1
Macrodactyly of toes - fatty nerve tumor Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital hypertrophy of nasal cavity Associated morphology True Hypertrophy Inferred relationship Some 1
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Associated morphology True Hypertrophy Inferred relationship Some 2
Congenital hypertrophy of retinal pigment epithelium Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital hypertrophy of testis Associated morphology True Hypertrophy Inferred relationship Some 1
Mowat-Wilson syndrome (disorder) Associated morphology True Hypertrophy Inferred relationship Some 2
Macrodactyly of toe (disorder) Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital hypertrophy of sphenoid bone Associated morphology True Hypertrophy Inferred relationship Some 1
Macrodactyly of thumb (disorder) Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital macrocheilia Associated morphology True Hypertrophy Inferred relationship Some 1
Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. Associated morphology True Hypertrophy Inferred relationship Some 2
Congenital overgrowth of lower limb Associated morphology True Hypertrophy Inferred relationship Some 1
Extensive aganglionosis Hirschsprung disease (disorder) Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital overgrowth of proximal lower limb Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital overgrowth of distal lower limb Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital macrodactyly (disorder) Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital hypertrophy of aortic valve Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital overgrowth of foot Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital overgrowth of whole lower limb Associated morphology True Hypertrophy Inferred relationship Some 1
Aganglionosis of Auerbach's plexus Associated morphology True Hypertrophy Inferred relationship Some 3
Congenital hypertrophy of lung Associated morphology True Hypertrophy Inferred relationship Some 1
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. Associated morphology True Hypertrophy Inferred relationship Some 2
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Associated morphology True Hypertrophy Inferred relationship Some 2
Congenital hypertrophy of pylorus Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital hypertrophy of fallopian tube (disorder) Associated morphology True Hypertrophy Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Associated morphology True Hypertrophy Inferred relationship Some 5
Hirschsprung disease of rectosigmoid region (disorder) Associated morphology True Hypertrophy Inferred relationship Some 2
Congenital hypertrophy of tricuspid valve Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital hypertrophy of ureteric valve Associated morphology True Hypertrophy Inferred relationship Some 1
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Associated morphology True Hypertrophy Inferred relationship Some 3
Congenital onychauxis Associated morphology True Hypertrophy Inferred relationship Some 1
Congenital aganglionic megacolon Associated morphology True Hypertrophy Inferred relationship Some 2
Giant esophagus Associated morphology True Hypertrophy Inferred relationship Some 1
Long segment Hirschsprung's disease Associated morphology True Hypertrophy Inferred relationship Some 3

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