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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
Agenesis of vulva Occurrence True Congenital Inferred relationship Some 1
Agenesis of hand Occurrence True Congenital Inferred relationship Some 1
Agenesis of foot Occurrence True Congenital Inferred relationship Some 1
Agenesis of ovary Occurrence True Congenital Inferred relationship Some 1
Agenesis of femur Occurrence True Congenital Inferred relationship Some 1
Agenesis of liver (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of tibia Occurrence True Congenital Inferred relationship Some 1
Agenesis of ilium Occurrence True Congenital Inferred relationship Some 1
Agenesis of pubis Occurrence True Congenital Inferred relationship Some 1
Agenesis of talus (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of vomer Occurrence True Congenital Inferred relationship Some 1
Agenesis of uterus Occurrence True Congenital Inferred relationship Some 1
Focal cortical dysplasia is a congenital abnormality with abnormal organisation of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type II usually presents in children. More extensive changes occur outside the temporal lobe and commonly in the frontal lobe. Occurrence True Congenital Inferred relationship Some 1
Focal cortical dysplasia type Ib Occurrence True Congenital Inferred relationship Some 1
Focal cortical dysplasia is a congenital abnormality with abnormal organisation of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type I presents late with mild symptoms and is more often seen in adults. Changes are present in the temporal lobe. Occurrence True Congenital Inferred relationship Some 1
Focal cortical dysplasia is a congenital abnormality with abnormal organization of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type Ia presents late with mild symptoms and is more often seen in adults. Changes are present in the temporal lobe and are restricted to cortical dyslamination. Occurrence True Congenital Inferred relationship Some 1
Familial spinal neurofibromatosis Occurrence True Congenital Inferred relationship Some 1
Familial spinal neurofibromatosis Occurrence True Congenital Inferred relationship Some 2
Agenesis of fibula Occurrence True Congenital Inferred relationship Some 1
Agenesis of ureter (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of testis (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of radius Occurrence True Congenital Inferred relationship Some 1
Agenesis of thymus Occurrence True Congenital Inferred relationship Some 1
Agenesis of spleen Occurrence True Congenital Inferred relationship Some 1
Agenesis of urinary bladder (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of cilia of eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of humerus (disorder) Occurrence True Congenital Inferred relationship Some 1
Synostosis of bilateral humerus and ulna (disorder) Occurrence True Congenital Inferred relationship Some 1
Synostosis of bilateral humerus and ulna (disorder) Occurrence True Congenital Inferred relationship Some 2
Lumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 3
Lumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 5
Lumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 6
Paternal 14q32.2 microdeletion (disorder) Occurrence True Congenital Inferred relationship Some 1
Paternal 14q32.2 microdeletion (disorder) Occurrence True Congenital Inferred relationship Some 2
Pelizaeus-Merzbacher disease null syndrome Occurrence True Congenital Inferred relationship Some 1
Pelizaeus-Merzbacher disease null syndrome Occurrence True Congenital Inferred relationship Some 2
Agenesis of stomach Occurrence True Congenital Inferred relationship Some 1
Agenesis of ischium Occurrence True Congenital Inferred relationship Some 1
Agenesis of maxilla Occurrence True Congenital Inferred relationship Some 1
Agenesis of trachea (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of bronchus Occurrence True Congenital Inferred relationship Some 1
Agenesis of vertebra Occurrence True Congenital Inferred relationship Some 1
Agenesis of scapula (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of pancreas Occurrence True Congenital Inferred relationship Some 1
Agenesis of clitoris (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of mandible (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of bile duct Occurrence True Congenital Inferred relationship Some 1
Agenesis of diaphragm (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of esophagus Occurrence True Congenital Inferred relationship Some 1
Agenesis of left hand Occurrence True Congenital Inferred relationship Some 1
Agenesis of sternebra Occurrence True Congenital Inferred relationship Some 1
Agenesis of calcaneus (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of hyoid bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of nasal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of epididymis (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of premaxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of right hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of gallbladder Occurrence True Congenital Inferred relationship Some 1
Agenesis of carpal bone Occurrence True Congenital Inferred relationship Some 1
Agenesis of tarsal bone Occurrence True Congenital Inferred relationship Some 1
Bilateral testicular agenesis Occurrence True Congenital Inferred relationship Some 1
Bilateral testicular agenesis Occurrence True Congenital Inferred relationship Some 2
Lumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 1
Lumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 2
Lumbosacral spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Lumbosacral spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 2
Lumbosacral spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Lumbosacral spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Lumbosacral spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 5
Lumbosacral spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 6
Congenital stenosis of male external urethral orifice Occurrence True Congenital Inferred relationship Some 1
Laryngeal cleft type 0 Occurrence True Congenital Inferred relationship Some 1
Bilateral humero-radio-ulnar synostosis Occurrence True Congenital Inferred relationship Some 1
Bilateral humero-radio-ulnar synostosis Occurrence True Congenital Inferred relationship Some 2
Bilateral humero-radio-ulnar synostosis Occurrence True Congenital Inferred relationship Some 3
Bilateral humero-radio-ulnar synostosis Occurrence True Congenital Inferred relationship Some 4
Bilateral humero-radio-ulnar synostosis Occurrence True Congenital Inferred relationship Some 5
Bilateral humero-radio-ulnar synostosis Occurrence True Congenital Inferred relationship Some 6
Type 3 lissencephaly Occurrence True Congenital Inferred relationship Some 1
Linear basal cell nevus is a rare hair follicle hamartoma that shows overlapping pathological features of basal cell carcinoma. Clinically it presents with a linear collection of macules and papules histologically similar to basal cell carcinoma but with benign progression. Occurrence True Congenital Inferred relationship Some 1
Linear umbilical cord disruption Occurrence False Congenital Inferred relationship Some 1
This is a rare autosomal recessive genetic and endocrine syndrome, characterised by a complete inability of the body to respond to luteinising hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testosterone. Occurrence True Congenital Inferred relationship Some 1
This is a rare autosomal recessive genetic and endocrine syndrome, characterised by a partial inability of the body to respond to luteinising hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testosterone. Occurrence True Congenital Inferred relationship Some 1
Intra-abdominal vitelline remnant Occurrence True Congenital Inferred relationship Some 1
Intra-abdominal vitelline remnant Occurrence False Congenital Inferred relationship Some 2
Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 3
Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 3
Malrotation of small intestine Occurrence True Congenital Inferred relationship Some 1
Lipoma due to neurospinal dysraphism Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of finger Occurrence True Congenital Inferred relationship Some 1
Congenital clinodactyly of little finger Occurrence True Congenital Inferred relationship Some 1
A rare genetic bone development disorder characterized by involvement of the clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Occurrence True Congenital Inferred relationship Some 1
Focal cortical dysplasia is a congenital abnormality with abnormal organisation of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type II usually presents in children. More extensive changes occur outside the temporal lobe and commonly in the frontal lobe. Type IIa is histologically distinct due to the absence of balloon cells. Occurrence True Congenital Inferred relationship Some 1
Focal cortical dysplasia is a congenital abnormality with abnormal organization of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type II usually presents in children. More extensive changes occur outside the temporal lobe and commonly in the frontal lobe. Type IIb is histologically distinct due to the presence of balloon cells. Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of optic nerve due to central nervous system malformation Occurrence True Congenital Inferred relationship Some 1
Hutterite type cataract (disorder) Occurrence True Congenital Inferred relationship Some 1
Intra-abdominal omphalomesenteric duct cyst (disorder) Occurrence True Congenital Inferred relationship Some 1

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