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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
Bilateral congenital metatarsus valgus Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital metatarsus valgus Occurrence True Congenital Inferred relationship Some 2
Incomplete congenital pyloric antral membrane (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. Occurrence True Congenital Inferred relationship Some 1
Congenital malrotation of large intestine Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of lymphatic system of cervicofacial region (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital megacalycosis of bilateral kidneys Occurrence True Congenital Inferred relationship Some 1
Bilateral central polydactyly of fingers Occurrence True Congenital Inferred relationship Some 1
Bilateral central polydactyly of fingers Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous fistula of umbilical blood vessels (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of umbilical cord (disorder) Occurrence False Congenital Inferred relationship Some 1
Congenital epibulbar choristoma of bilateral eyes Occurrence True Congenital Inferred relationship Some 1
Congenital epibulbar choristoma of bilateral eyes Occurrence True Congenital Inferred relationship Some 2
Congenital duplication of gallbladder type 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital ectropion of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital ectropion of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital diverticulum of large intestine Occurrence True Congenital Inferred relationship Some 1
Bilateral Madelung deformity (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral Madelung deformity (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral Madelung deformity (disorder) Occurrence True Congenital Inferred relationship Some 3
Bilateral Madelung deformity (disorder) Occurrence True Congenital Inferred relationship Some 4
Bilateral Madelung deformity (disorder) Occurrence True Congenital Inferred relationship Some 5
Bilateral Madelung deformity (disorder) Occurrence True Congenital Inferred relationship Some 6
Bilateral choanal atresia Occurrence True Congenital Inferred relationship Some 1
Bilateral central polydactyly of toes Occurrence True Congenital Inferred relationship Some 1
Bilateral central polydactyly of toes Occurrence True Congenital Inferred relationship Some 2
Congenital duplication of gallbladder type 1 results from a split primordium, which can be septated, bilobed or Y-shaped. Occurrence True Congenital Inferred relationship Some 1
Less than 50% stenosis according to the Cotton-Myer scale. Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of the tracheobronchial tree (disorder) Occurrence True Congenital Inferred relationship Some 1
Between 51% and 70% stenosis according to the Cotton-Myer scale. Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary airway malformation type 4 originates in the acinar structures of the lung. It consists of peripheral thin-walled cysts, typically affecting a single lobe. There is a strong association with type 1 pleuropulmonary blastoma. Occurrence True Congenital Inferred relationship Some 1
Congenital prolapse of mitral valve Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary airway malformation type 2 originates in the bronchiolar regions and is the second most frequent type, comprising 15-25% of cases. It may be associated with other types of renal or cardiac anomalies. Usually, it presents as multiple small cysts less than 2cm in diameter. The prognosis is good with no malignant potential. Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary airway malformation type 3 originates in the bronchiolar regions and may involve an entire lobe, compressing other lobes. It comprises 10% of all cases and the lesions may be solid not cystic and are less than 5mm in diameter. The prognosis is good with no malignant potential; however, there is typically an absence of pulmonary arteries within the lesion. Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary airway malformation type 1 is the commonest type, comprising about 70% of all cases. The cysts in this type are usually located within a single lobe and lined with columnar epithelium. There are often 1 or 2 large cysts up to 10cm in size which may be surrounded by smaller cysts. Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary airway malformation type 0 originates in the trachea or bronchi with acinar dysgenesis, cartilage, smooth muscles, and glands separated by mesenchyme. It is fatal after birth. Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration. Occurrence True Congenital Inferred relationship Some 1
Congenital pit of bilateral optic discs Occurrence True Congenital Inferred relationship Some 1
Congenital pit of bilateral optic discs Occurrence True Congenital Inferred relationship Some 2
Congenital bowing of ulna Occurrence True Congenital Inferred relationship Some 1
Congenital bronchocele Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of patella (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral breasts (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral breasts (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital abnormality of truncal valve Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral forearms and hands (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral forearms and hands (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital absence of bilateral forearms and hands (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital absence of bilateral forearms and hands (disorder) Occurrence True Congenital Inferred relationship Some 4
Bilateral congenital absence of both lower leg and foot Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital absence of both lower leg and foot Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital absence of both lower leg and foot Occurrence True Congenital Inferred relationship Some 3
Bilateral congenital absence of both lower leg and foot Occurrence True Congenital Inferred relationship Some 4
Bilateral complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 1
Bilateral complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 2
Congenital diverticulum of gallbladder (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral complete phocomelia of upper limb Occurrence True Congenital Inferred relationship Some 1
Bilateral complete phocomelia of upper limb Occurrence True Congenital Inferred relationship Some 2
Bilateral complete phocomelia of upper limb Occurrence True Congenital Inferred relationship Some 3
Complete cryptophthalmos (disorder) Occurrence True Congenital Inferred relationship Some 1
Complete congenital antral web Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of bilateral glenohumeral joints (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of bilateral glenohumeral joints (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital dislocation of joint (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital patella dislocation Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital patella dislocation Occurrence True Congenital Inferred relationship Some 2
Congenital dislocation of bilateral elbows (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of bilateral elbows (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital dacryocele of bilateral lacrimal sacs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dacryocele of bilateral lacrimal sacs (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital vitreous cyst Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of bilateral fingers (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of bilateral fingers (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital coloboma of bilateral eyelids Occurrence True Congenital Inferred relationship Some 1
Congenital coloboma of bilateral eyelids Occurrence True Congenital Inferred relationship Some 2
Bilateral cryptophthalmos Occurrence True Congenital Inferred relationship Some 1
Bilateral cryptophthalmos Occurrence True Congenital Inferred relationship Some 2
Bilateral syndactyly of fingers with fusion of bones Occurrence True Congenital Inferred relationship Some 1
Bilateral syndactyly of fingers with fusion of bones Occurrence True Congenital Inferred relationship Some 2
Cervicothoracic spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Cervicothoracic spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 2
Cervicothoracic spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Cervicothoracic spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Cervicothoracic spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 5
Cervicothoracic spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 6
Secondary congenital hyperplasia of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 1
Secondary congenital hyperplasia of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 2
Proximal symphalangism of bilateral fingers (disorder) Occurrence True Congenital Inferred relationship Some 1
Proximal symphalangism of bilateral fingers (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary congenital hypoplasia of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 1
Primary congenital hypoplasia of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary congenital hyperplasia of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 1
Primary congenital hyperplasia of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral preaxial polydactyly of toes Occurrence True Congenital Inferred relationship Some 1
Bilateral preaxial polydactyly of toes Occurrence True Congenital Inferred relationship Some 2
Complete agenesis of vermis (disorder) Occurrence True Congenital Inferred relationship Some 1
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly and neurological developmental delay. Type 3 Cockayne syndrome, is the mildest type. Occurrence True Congenital Inferred relationship Some 1
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 1 Cockayne syndrome, also 'classic' or 'moderate' usually presents in early childhood. Occurrence True Congenital Inferred relationship Some 1
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 2 Cockayne syndrome, also known as 'severe' or 'early onset' usually presents in at or soon after birth. Occurrence True Congenital Inferred relationship Some 1
Classical phenylketonuria with partial deficiency of phenylalanine hydroxylase (disorder) Occurrence True Congenital Inferred relationship Some 1
Classical phenylketonuria with total deficiency of phenylalanine hydroxylase Occurrence True Congenital Inferred relationship Some 1

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