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255399007: Congenital (qualifier value)

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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Lumbar hydromyelocele Occurrence False Congenital Inferred relationship Some 4
Thoracic hydromyelocele Occurrence False Congenital Inferred relationship Some 4
Lumbar myelocele Occurrence True Congenital Inferred relationship Some 3
Thoracic myelocele Occurrence True Congenital Inferred relationship Some 3
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. Occurrence True Congenital Inferred relationship Some 4
Cervical myelocele Occurrence True Congenital Inferred relationship Some 4
hydromyélocèle Occurrence False Congenital Inferred relationship Some 5
Cervical hydromyelocele Occurrence False Congenital Inferred relationship Some 5
Lumbar hydromyelocele Occurrence False Congenital Inferred relationship Some 5
Thoracic hydromyelocele Occurrence False Congenital Inferred relationship Some 5
Lumbar myelocele Occurrence True Congenital Inferred relationship Some 4
Thoracic myelocele Occurrence True Congenital Inferred relationship Some 4
Lumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 4
Cervical myelocele Occurrence False Congenital Inferred relationship Some 5
Cervical hydromyelocele Occurrence False Congenital Inferred relationship Some 6
Thoracic hydromyelocele Occurrence False Congenital Inferred relationship Some 6
Lumbar myelocele Occurrence False Congenital Inferred relationship Some 5
Thoracic myelocele Occurrence False Congenital Inferred relationship Some 5
Cleft of right hard palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft of right hard palate (disorder) Occurrence False Congenital Inferred relationship Some 2
Cleft of left hard palate Occurrence True Congenital Inferred relationship Some 1
Cleft of left hard palate Occurrence False Congenital Inferred relationship Some 2
Complete cleft of right hard and soft palate Occurrence True Congenital Inferred relationship Some 1
Complete cleft of right hard and soft palate Occurrence True Congenital Inferred relationship Some 2
Complete cleft of right hard and soft palate Occurrence False Congenital Inferred relationship Some 3
Complete cleft of left hard and soft palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Complete cleft of left hard and soft palate (disorder) Occurrence True Congenital Inferred relationship Some 2
Complete cleft of left hard and soft palate (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital anomaly of umbilical artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital megacalycosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital megacalycosis of bilateral kidneys Occurrence True Congenital Inferred relationship Some 2
Neurocutaneous melanosis Occurrence True Congenital Inferred relationship Some 1
Neurocutaneous melanosis Occurrence True Congenital Inferred relationship Some 2
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. Occurrence True Congenital Inferred relationship Some 3
Congenital endocardial fibroelastosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. Occurrence True Congenital Inferred relationship Some 4
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. Occurrence True Congenital Inferred relationship Some 7
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Occurrence True Congenital Inferred relationship Some 5
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. Occurrence True Congenital Inferred relationship Some 6
Hirschsprung disease of rectosigmoid region (disorder) Occurrence True Congenital Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Occurrence True Congenital Inferred relationship Some 4
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Occurrence True Congenital Inferred relationship Some 5
Pulmonary tuberous sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 5
Pulmonary tuberous sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 6
Hereditary neurocutaneous angiomata (disorder) Occurrence True Congenital Inferred relationship Some 4
Hereditary neurocutaneous angiomata (disorder) Occurrence False Congenital Inferred relationship Some 5
Port-wine stain in proteus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Port-wine stain in proteus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Legius syndrome Occurrence True Congenital Inferred relationship Some 1
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Occurrence True Congenital Inferred relationship Some 5
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Occurrence True Congenital Inferred relationship Some 6
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. Occurrence True Congenital Inferred relationship Some 4
Fibrous skin tumor of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 5
Tuberous sclerosis syndrome Occurrence True Congenital Inferred relationship Some 4
Pulmonary tuberous sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 7
Ash leaf spot, tuberous sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 5
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. Occurrence True Congenital Inferred relationship Some 2
Fibrous dysplasia of bone with intramuscular myxoma Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. Occurrence True Congenital Inferred relationship Some 3
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. Occurrence True Congenital Inferred relationship Some 4
Transient congenital hypothyroidism due to dual oxidase 2 mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Late congenital cardiovascular syphilis Occurrence True Congenital Inferred relationship Some 1
Congenital extramedullary dermal hematopoiesis Occurrence True Congenital Inferred relationship Some 1
Late congenital syphilitic osteochondropathy Occurrence True Congenital Inferred relationship Some 1
Late congenital syphilitic osteochondropathy Occurrence True Congenital Inferred relationship Some 2
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital junctional ectopic tachycardia Occurrence True Congenital Inferred relationship Some 1
Sirenomelus (disorder) Occurrence True Congenital Inferred relationship Some 1
Sirenomelus (disorder) Occurrence True Congenital Inferred relationship Some 2
Late congenital syphilitic optic atrophy Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Occurrence True Congenital Inferred relationship Some 1
Congenital paucity of intrahepatic bile ducts (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital macrocephaly (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 3
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 4
Complete left cleft lip and incomplete right cleft lip Occurrence True Congenital Inferred relationship Some 1
Complete left cleft lip and incomplete right cleft lip Occurrence True Congenital Inferred relationship Some 2
Complete right cleft lip and incomplete left cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Complete right cleft lip and incomplete left cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Occurrence True Congenital Inferred relationship Some 4
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Occurrence True Congenital Inferred relationship Some 2
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Occurrence True Congenital Inferred relationship Some 3
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of carotid artery Occurrence True Congenital Inferred relationship Some 1
Congenital supravalvular pulmonary stenosis Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of eustachian tube Occurrence True Congenital Inferred relationship Some 1
Congenital urinary meatus obstruction (disorder) Occurrence True Congenital Inferred relationship Some 1
3 beta-Hydroxysteroid dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital varix Occurrence True Congenital Inferred relationship Some 1
Stomach in right sided position (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of innominate artery Occurrence True Congenital Inferred relationship Some 1
Congenital obstruction of ureteral orifice Occurrence True Congenital Inferred relationship Some 1
Congenital hydrocele Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of intestinal tract Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of colon Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of appendix Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of mitral subvalvular apparatus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital syringomyelia (disorder) Occurrence True Congenital Inferred relationship Some 1
Right inferior vena cava connecting to left sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Accessory hepatic duct Occurrence True Congenital Inferred relationship Some 1

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