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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
380598010 Congenital en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Congenital Is a Fetal and/or neonatal period true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Melorheostosis of humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary butyrylcholinesterase deficiency (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive agammaglobulinemia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypohidrosis-diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital rectal stenosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Simple syndactyly of toes, first web space Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of knee (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of right knee Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of left knee Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of shoulder region Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dislocation of joint of shoulder region (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dislocation of left glenohumeral joint Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dislocation of right glenohumeral joint Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital neurogenic urinary bladder (finding) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Fused common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of foot Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculocutaneous albinism type 8 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculocutaneous albinism type 8 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Luscan Lumish syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital spondylolysis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Clark Baraitser syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL7-related Bohring Opitz-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL7-related Bohring Opitz-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital dysplasia of joint of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 11 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 11 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 11 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 12 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 12 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 12 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 12 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital pontocerebellar hypoplasia type 12 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital pontocerebellar hypoplasia type 13 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 13 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of left shoulder region Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of joint of right shoulder region (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of right ankle joint (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of ankle joint (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of left ankle joint (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pneumonia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare congenital limb malformation with characteristics of true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Isolated lipoma of filum terminale Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated lipoma of filum terminale Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Myelic limited dorsal malformation Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Myelic limited dorsal malformation Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Myelic limited dorsal malformation Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Atresia of common atrioventricular valve Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Right atrioventricular valve atresia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital atresia of anterior naris (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital atresia of left anterior naris (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital atresia of right anterior naris (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Left atrioventricular valve atresia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Chaotic conus spinal cord lipoma Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Chaotic conus spinal cord lipoma Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Chaotic conus spinal cord lipoma Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital retained medullary spinal cord Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital retained medullary spinal cord Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital retained medullary spinal cord Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Non-saccular limited dorsal myeloschisis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-saccular limited dorsal myeloschisis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-saccular limited dorsal myeloschisis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Limited dorsal myeloschisis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Limited dorsal myeloschisis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Limited dorsal myeloschisis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Saccular limited dorsal myeloschisis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Saccular limited dorsal myeloschisis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Saccular limited dorsal myeloschisis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital non-dysraphic lipoma of medulla of spinal cord (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital non-dysraphic lipoma of medulla of spinal cord (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2

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