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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Ectopic artery Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive cutis laxa type 2A Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive cutis laxa type 2A Occurrence True Congenital Inferred relationship Some 3
Posterior fossa arachnoid cyst Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure Occurrence True Congenital Inferred relationship Some 1
Congenital cystic disease of liver Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure Occurrence True Congenital Inferred relationship Some 1
Congenital vesicoureterorenal reflux, bilateral Occurrence True Congenital Inferred relationship Some 4
Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation Occurrence True Congenital Inferred relationship Some 1
Multiple congenital anomalies, hypotonia, seizures syndrome Occurrence True Congenital Inferred relationship Some 2
Multiple congenital anomalies, hypotonia, seizures syndrome Occurrence True Congenital Inferred relationship Some 3
Multiple congenital anomalies, hypotonia, seizures syndrome Occurrence True Congenital Inferred relationship Some 1
Muscle eye brain disease with bilateral multicystic leukodystrophy Occurrence True Congenital Inferred relationship Some 4
Muscle eye brain disease with bilateral multicystic leukodystrophy Occurrence True Congenital Inferred relationship Some 2
Cobblestone lissencephaly without muscular or ocular involvement Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 24 Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 Occurrence False Congenital Inferred relationship Some 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E Occurrence True Congenital Inferred relationship Some 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A Occurrence True Congenital Inferred relationship Some 1
Hypertrophic Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Pachyonychia congenita syndrome Occurrence True Congenital Inferred relationship Some 1
Obesity due to leptin receptor gene deficiency Occurrence True Congenital Inferred relationship Some 1
Obesity due to leptin receptor gene deficiency Occurrence True Congenital Inferred relationship Some 2
Branchial cleft sinus and fistula Occurrence True Congenital Inferred relationship Some 2
Fistula of branchial cleft Occurrence True Congenital Inferred relationship Some 1
Aneurysm osteoarthritis syndrome Occurrence True Congenital Inferred relationship Some 2
Aneurysm osteoarthritis syndrome Occurrence True Congenital Inferred relationship Some 3
Fordyce's disease Occurrence False Congenital Inferred relationship Some 1
Fordyce spots of lips Occurrence False Congenital Inferred relationship Some 1
Bilateral multicystic renal dysplasia Occurrence True Congenital Inferred relationship Some 4
Lethal arthrogryposis with anterior horn cell disease Occurrence True Congenital Inferred relationship Some 2
Distal arthrogryposis type 4 Occurrence True Congenital Inferred relationship Some 2
Lethal congenital contracture syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of right optic disc Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of optic disc Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of optic disc Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of left optic disc Occurrence True Congenital Inferred relationship Some 1
Fistula colli congenita Occurrence True Congenital Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 5
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital systemic arteriovenous fistula Occurrence True Congenital Inferred relationship Some 1
Microphthalmos of right eye Occurrence True Congenital Inferred relationship Some 1
Microphthalmos of left eye Occurrence True Congenital Inferred relationship Some 1
Congenital pit of optic disc Occurrence True Congenital Inferred relationship Some 1
Congenital pit of optic disc of left eye Occurrence True Congenital Inferred relationship Some 1
Congenital pit of optic disc of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital anterior subcapsular polar cataract Occurrence True Congenital Inferred relationship Some 1
Major aortopulmonary collateral artery Occurrence True Congenital Inferred relationship Some 4
Congenital posterior subcapsular polar cataract Occurrence True Congenital Inferred relationship Some 1
Congenital blepharophimosis Occurrence False Congenital Inferred relationship Some 2
Congenital blepharophimosis of lower eyelid Occurrence False Congenital Inferred relationship Some 2
Bilateral congenital aniridia of eyes Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital aniridia of eyes Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital esotropia of eyes Occurrence False Congenital Inferred relationship Some 2
Bilateral congenital esotropia of eyes Occurrence False Congenital Inferred relationship Some 1
Microcephaly with brachydactyly and kyphoscoliosis syndrome Occurrence False Congenital Inferred relationship Some 5
Accessory tarsal bone of left foot Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy type 1A Occurrence True Congenital Inferred relationship Some 1
Arthrogryposis-like hand anomaly and sensorineural deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Neurogenic arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 3
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Occurrence True Congenital Inferred relationship Some 1
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital and developmental myasthenia Occurrence False Congenital Inferred relationship Some 1
21q22.11q22.12 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
21q22.11q22.12 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
21q22.11q22.12 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Monosomy 22 syndrome Occurrence True Congenital Inferred relationship Some 1
Muenke syndrome Occurrence True Congenital Inferred relationship Some 1
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Occurrence True Congenital Inferred relationship Some 3
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Occurrence True Congenital Inferred relationship Some 1
Oligodontia Occurrence True Congenital Inferred relationship Some 2
Oligodontia Occurrence True Congenital Inferred relationship Some 1
Bifid nose Occurrence True Congenital Inferred relationship Some 1
Solitary infantile myofibromatosis Occurrence True Congenital Inferred relationship Some 1
Infantile myofibromatosis Occurrence True Congenital Inferred relationship Some 1
Aggressive systemic infantile myofibromatosis Occurrence True Congenital Inferred relationship Some 1
Multicentric infantile myofibromatosis Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital nuclear cataracts of eyes Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital nuclear cataracts of eyes Occurrence True Congenital Inferred relationship Some 1
Congenital posterior subcapsular polar cataract of left eye Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital posterior subcapsular polar cataracts of eyes Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital posterior subcapsular polar cataracts of eyes Occurrence True Congenital Inferred relationship Some 1
Congenital posterior subcapsular polar cataract of right eye Occurrence True Congenital Inferred relationship Some 1
Amyotonia congenita Occurrence True Congenital Inferred relationship Some 2
Amyotonia congenita Occurrence True Congenital Inferred relationship Some 1
Congenital subaortic diverticulum Occurrence True Congenital Inferred relationship Some 1
Congenital ectopia of lacrimal punctum Occurrence True Congenital Inferred relationship Some 1
Congenital rhabdomyomatous mesenchymal hamartoma Occurrence True Congenital Inferred relationship Some 1
Congenital diffuse lipomatosis Occurrence True Congenital Inferred relationship Some 1
Congenital postural scoliosis Occurrence True Congenital Inferred relationship Some 1
Encephalocraniocutaneous lipomatosis Occurrence True Congenital Inferred relationship Some 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Occurrence True Congenital Inferred relationship Some 2
Congenital hydrocele of canal of Nuck Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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