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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
X-linked hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Spastic paraplegia, nephritis, deafness syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Waardenburg Shah syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Atrichia with papular lesions Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hereditary cavernous hemangioma of brain Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Blepharophimosis, intellectual disability syndrome, Verloes type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Schwannomatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Teebi Shaltout syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 7
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Focal palmoplantar and gingival keratoderma Occurrence False Congenital Inferred relationship Existential restriction modifier 3
RAB18, member RAS oncogene family deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome spondylocheirodysplastic type Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Roifman syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Complete aphalangia of upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ectopia cordis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lumbosacral prespondylolisthesis Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Lowe syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lowe syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Wildervanck syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Wildervanck syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Wildervanck syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Wildervanck syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Ehlers-Danlos syndrome, dominant type 4 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Prader-Willi syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Monostotic fibrous dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aicardi's syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Floating gallbladder Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cor biloculare Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cor biloculare Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Treacher Collins syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome, type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome, dysfibronectinemic Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Osteitis fibrosa cystica Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Congenital cleft of thymus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neurofibromatosis type 2 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Neurofibromatosis type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Combined valvular-subvalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital abnormal fusion of arch of lumbar vertebra Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Monophthalmos Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Extracapsular adrenal tissue Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hemicentric lumbar centrum Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Hemicentric thoracic centrum Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Hologastroschisis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Single naris Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hallermann-Streiff syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distichiasis-lymphedema syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Hereditary elliptocytosis due to alpha spectrin defect Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Congenital syphilitic choroiditis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 8
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 7
Congenital volvulus of stomach Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital duodenal obstruction due to annular pancreas Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital lymphangiectasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cutaneous lymphangiectasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital lymphangiectasia with chylous reflux Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital abnormality of atrium Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Blepharophimosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Blepharophimosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Arteriovenous malformation of uterus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Atresia of esophagus co-occurrent with esophagobronchial fistula Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Atresia of esophagus co-occurrent with esophagobronchial fistula Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Atresia of esophagus co-occurrent with esophagobronchial fistula Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Gamma delta beta thalassemia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Agenesis of artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neurenteric cyst Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Focal facial dermal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Focal facial dermal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Focal facial dermal dysplasia type I Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Focal facial dermal dysplasia type I Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Focal facial dermal dysplasia type II Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Focal facial dermal dysplasia type II Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Focal facial dermal dysplasia type III Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Focal facial dermal dysplasia type III Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Focal facial dermal dysplasia type IV Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Focal facial dermal dysplasia type IV Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked acrogigantism due to Xq26 microduplication Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of anterior portion of neck Occurrence True Congenital Inferred relationship Existential restriction modifier 1
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Complete achromatopsia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Blue cone monochromatism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital racemose hemangioma of retina Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short-limb skeletal dysplasia with severe combined immunodeficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Short-limb skeletal dysplasia with severe combined immunodeficiency Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Short-limb skeletal dysplasia with severe combined immunodeficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Short-limb skeletal dysplasia with severe combined immunodeficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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