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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
Seizures, scoliosis, macrocephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital paraplegia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Partially involuting congenital hemangioma Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital lordosis deformity of spine Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital lordosis and scoliosis deformity of spine Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital lordosis and scoliosis deformity of spine Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Unilateral multicystic renal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Unilateral multicystic renal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Glycogen storage disease due to aldolase A deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neonatal jaundice with congenital hypothyroidism Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Deficiency of galactose mutarotase Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Phosphoglucomutase 3-related congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Reticular dysgenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Severe combined immunodeficiency with reticular dysgenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Wiskott-Aldrich autosomal dominant variant syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Reticular dysgenesis with congenital aleukocytosis Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Peroxisome biogenesis disorder due to PEX5 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX6 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Beta chain electron transfer flavoprotein deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Alpha chain electron transfer flavoprotein deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe infantile form of carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX1 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX10 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX13 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX12 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX16 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX14 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX26 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX3 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX19 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisome biogenesis disorder due to PEX2 mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non-syndromic mitochondrial sensorineural deafness Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neonatal form of carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myopathic form of carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Basel Vanagaite Smirin Yosef syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex IV assembly gene defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex II structural subunit gene defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex III assembly gene defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex II assembly gene defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex I structural subunit gene defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex I assembly gene defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex III structural subunit gene defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial respiratory chain complex IV structural subunit gene defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Osteogenesis imperfecta type IIC Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hereditary hemorrhagic telangiectasia of gingiva Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hereditary hemorrhagic telangiectasia of gingiva Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Osteogenesis imperfecta, type IV B Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Melorheostosis with osteopoikilosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Melorheostosis with osteopoikilosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hallermann Streiff like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hallermann Streiff like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital ichthyosis, microcephalus, tetraplegia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sanjad Sakati syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sanjad Sakati syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Typical nemaline myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Actin accumulation myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intermediate nemaline myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe congenital nemaline myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Amish nemaline myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Posterior meningocele Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Posterior meningocele Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Posterior meningocele Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Microform holoprosencephaly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Autosomal recessive dysgenesis of anterior segment of eye Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked dominant erythropoietic protoporphyria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial cavitary optic disc anomaly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital portosystemic shunt Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Congenital portosystemic shunt Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Combined immunodeficiency, enteropathy spectrum Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hyaline fibromatosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Infantile systemic hyalinosis Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Short stature, advanced bone age, early-onset osteoarthritis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3

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