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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Microphthalmos of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microphthalmos of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital pit of optic disc Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital pit of optic disc of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital pit of optic disc of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anterior subcapsular polar cataract Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Major aortopulmonary collateral artery Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Congenital posterior subcapsular polar cataract Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital blepharophimosis Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Congenital blepharophimosis of lower eyelid Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Congenital aniridia of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital aniridia of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Infantile esotropia of bilateral eyes Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Infantile esotropia of bilateral eyes Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Microcephalus with brachydactyly and kyphoscoliosis syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Accessory tarsal bone of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy type 1A Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal arthrogryposis type 6 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neurogenic arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant multiple pterygium syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital and developmental myasthenia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
21q22.11q22.12 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
21q22.11q22.12 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
21q22.11q22.12 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Monosomy 22 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Muenke syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oligodontia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oligodontia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bifid nose Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Solitary infantile myofibromatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Infantile myofibromatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aggressive systemic infantile myofibromatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multicentric infantile myofibromatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital nuclear cataract of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital nuclear cataract of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital posterior subcapsular polar cataract of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital posterior subcapsular polar cataract of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital posterior subcapsular polar cataract of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital posterior subcapsular polar cataract of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Amyotonia congenita Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Amyotonia congenita Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital subaortic diverticulum Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital ectopia of lacrimal punctum Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital rhabdomyomatous mesenchymal hamartoma Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital diffuse lipomatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital postural scoliosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Encephalocraniocutaneous lipomatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital hydrocele of canal of Nuck Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pendred's syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Aneurysm osteoarthritis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Phosphoglucomutase 1-related congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bleeding diathesis due to thromboxane synthesis deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Chronic granulomatous disease, type II Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Muscle eye brain disease with bilateral multicystic leukodystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Chronic granulomatous disease, type III Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal dominant secondary polycythemia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Heart defect, tongue hamartoma, polysyndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Short chain acyl-coenzyme A dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Chronic granulomatous disease, type IIA Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cervical hydromyelocele Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Lumbar hydromyelocele Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Periodontitis co-occurrent with Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hypopigmentation-immunodeficiency disease Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Lipoyl transferase 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Usher syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Chronic granulomatous disease, type I Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Thoracic hydromyelocele Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Congenital arthrogryposis caused by teratogen Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Chronic granulomatous disease, type IV Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Male pseudohermaphroditism due to 5-alpha-reductase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive cutis laxa type 2A Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brachydactylous dwarfism Mseleni type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Albinism with deafness syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Retinitis pigmentosa-deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Usher syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Chronic granulomatous disease, type IA Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Menkes kinky-hair syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Chronic granulomatous disease, type IVA Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Brachydactyly, short stature, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Osteopetrosis hypogammaglobulinemia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Occurrence True Congenital Inferred relationship Existential restriction modifier 7
Retinitis pigmentosa-deafness-ataxia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4

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