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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
Congenital myotonic dystrophy Occurrence False Congenital Inferred relationship Some
Juvenile idiopathic generalised osteoporosis Occurrence False Congenital Inferred relationship Some
Arthrogryposis Occurrence False Congenital Inferred relationship Some
Chronic congenital cytomegalic inclusion disease Occurrence False Congenital Inferred relationship Some
Juvenile tabes dorsalis Occurrence False Congenital Inferred relationship Some
syphilis neurovasculaire congénitale tardive Occurrence False Congenital Inferred relationship Some
Hutchinson's triad Occurrence False Congenital Inferred relationship Some
Kyphoscoliosis deformity of spine Occurrence False Congenital Inferred relationship Some
DeSanctis-Cacchione syndrome Occurrence False Congenital Inferred relationship Some
Sjögren-Larsson syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Occurrence False Congenital Inferred relationship Some
Multiple lentigines syndrome Occurrence False Congenital Inferred relationship Some
Leprechaunism syndrome Occurrence False Congenital Inferred relationship Some
8q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Occurrence False Congenital Inferred relationship Some
Malignant atrophic papulosis Occurrence False Congenital Inferred relationship Some
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome X Occurrence False Congenital Inferred relationship Some
Syndactyly Occurrence False Congenital Inferred relationship Some
Adactylia Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of tibia AND/OR fibula Occurrence False Congenital Inferred relationship Some
Congenital absence of nose Occurrence False Congenital Inferred relationship Some
Congenital cystic adenomatoid malformation of lung (disorder) Occurrence False Congenital Inferred relationship Some
Truncus arteriosus, Edwards' type IV Occurrence False Congenital Inferred relationship Some
Rudimentary left ventricle Occurrence False Congenital Inferred relationship Some
Right aortic arch Occurrence False Congenital Inferred relationship Some
Congenital anomaly of pulmonary veins Occurrence False Congenital Inferred relationship Some
Total anomalous pulmonary venous return Occurrence False Congenital Inferred relationship Some
Congenital absence of breast Occurrence False Congenital Inferred relationship Some
Horner's teeth (disorder) Occurrence False Congenital Inferred relationship Some
Posterior crossbite Occurrence False Congenital Inferred relationship Some
Congenital anomaly of salivary gland Occurrence False Congenital Inferred relationship Some
Congenital diverticulum of pharynx Occurrence False Congenital Inferred relationship Some
Congenital prolapsed rectum Occurrence False Congenital Inferred relationship Some
Congenital rectovaginal fistula Occurrence False Congenital Inferred relationship Some
Congenital dilatation of lobar intrahepatic bile duct Occurrence False Congenital Inferred relationship Some
Male pseudohermaphroditism Occurrence False Congenital Inferred relationship Some
Congenital anomaly of genital system Occurrence False Congenital Inferred relationship Some
Embryonic cyst of epoophoron Occurrence False Congenital Inferred relationship Some
Congenital absence of vulva Occurrence False Congenital Inferred relationship Some
Congenital lateral curvature of penis Occurrence False Congenital Inferred relationship Some
Dyke-Davidoff-Masson syndrome Occurrence False Congenital Inferred relationship Some
Agenesis of nerve (disorder) Occurrence False Congenital Inferred relationship Some
Congenital anomaly of ear with impairment of hearing Occurrence False Congenital Inferred relationship Some
Congenital fistula of auricle Occurrence False Congenital Inferred relationship Some
Cephalodiprosopus Occurrence False Congenital Inferred relationship Some
Paraumbilical hernia with gangrene Occurrence False Congenital Inferred relationship Some
Chemically-induced lipidosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Dysmorphic sialidosis, juvenile form Occurrence False Congenital Inferred relationship Some 3
Ganglioside sialidase deficiency Occurrence False Congenital Inferred relationship Some
Tay-Sachs disease Occurrence True Congenital Inferred relationship Some 1
Homozygous porphyria cutanea tarda Occurrence False Congenital Inferred relationship Some
Porphyria caused by toxic effect of substance (disorder) Occurrence False Congenital Inferred relationship Some
Cutis laxa, autosomal dominant Occurrence False Congenital Inferred relationship Some
Dominant dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Acatalasia Occurrence False Congenital Inferred relationship Some
Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Some
Saccharopinuria Occurrence False Congenital Inferred relationship Some
Conjoined twins causing disproportion Occurrence False Congenital Inferred relationship Some
Congenital stricture of osseous meatus of middle ear Occurrence False Congenital Inferred relationship Some
Syringomyelia (disorder) Occurrence False Congenital Inferred relationship Some
Walker-Warburg congenital muscular dystrophy Occurrence False Congenital Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Occurrence False Congenital Inferred relationship Some
Congenital atransferrinemia Occurrence True Congenital Inferred relationship Some 3
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Occurrence False Congenital Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Occurrence False Congenital Inferred relationship Some
Reticular dysgenesis Occurrence False Congenital Inferred relationship Some 4
SCID due to absent IL-2 receptor Occurrence True Congenital Inferred relationship Some 2
Brown oculocutaneous albinism Occurrence False Congenital Inferred relationship Some
Glycogen storage disease, type IV Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of anus Occurrence False Congenital Inferred relationship Some
Hydromyelia Occurrence False Congenital Inferred relationship Some 4
Chronic granulomatous disease Occurrence False Congenital Inferred relationship Some
Retinal arteriovenous dilatation Occurrence False Congenital Inferred relationship Some
Retinal arteriovenous shunt Occurrence False Congenital Inferred relationship Some
Retinal cirsoid aneurysm Occurrence False Congenital Inferred relationship Some
Optic disc vascular anomaly Occurrence False Congenital Inferred relationship Some
Cilioretinal vessels Occurrence False Congenital Inferred relationship Some
Cilioretinal artery Occurrence False Congenital Inferred relationship Some
Retinociliary vein Occurrence False Congenital Inferred relationship Some
Opticociliary vessels Occurrence False Congenital Inferred relationship Some
Raised birthmark Occurrence False Congenital Inferred relationship Some
Flat birthmark Occurrence False Congenital Inferred relationship Some
Congenital anomaly of pharynx Occurrence False Congenital Inferred relationship Some
Transient hyperammonemia in infancy Occurrence False Congenital Inferred relationship Some
Aberrant artery Occurrence False Congenital Inferred relationship Some
Wharton's jelly excessive Occurrence False Congenital Inferred relationship Some
Oculocutaneous albinoidism Occurrence False Congenital Inferred relationship Some
Right ventricular fibromuscular infundibular stenosis Occurrence False Congenital Inferred relationship Some
Right ventricular muscular infundibular stenosis Occurrence False Congenital Inferred relationship Some
Bicuspid doming of aortic cusp (disorder) Occurrence False Congenital Inferred relationship Some
Congenital malformation of angle of anterior chamber of eye Occurrence False Congenital Inferred relationship Some
Goniodysgenesis (disorder) Occurrence False Congenital Inferred relationship Some
Barkan membrane Occurrence False Congenital Inferred relationship Some
Myofibromatosis Occurrence False Congenital Inferred relationship Some
Fanconi-de Toni-Debre syndrome Occurrence False Congenital Inferred relationship Some
Neural tube defect Occurrence False Congenital Inferred relationship Some 3
Frontal encephalocele Occurrence False Congenital Inferred relationship Some
Frontoethmoidal encephalocele Occurrence False Congenital Inferred relationship Some
Nasofrontal encephalocele Occurrence False Congenital Inferred relationship Some
Nasopharyngeal encephalocele Occurrence False Congenital Inferred relationship Some

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This concept is not in any reference sets

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