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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

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
Seizures, scoliosis, macrocephaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital paraplegia Occurrence True Congenital Inferred relationship Some 2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence True Congenital Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Occurrence True Congenital Inferred relationship Some 2
Partially involuting congenital hemangioma (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital lordosis deformity of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Unilateral multicystic renal dysplasia Occurrence True Congenital Inferred relationship Some 1
Unilateral multicystic renal dysplasia Occurrence True Congenital Inferred relationship Some 2
Glycogen storage disease due to aldolase A deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Occurrence True Congenital Inferred relationship Some 1
Neonatal jaundice with congenital hypothyroidism Occurrence False Congenital Inferred relationship Some 5
Deficiency of galactose mutarotase Occurrence True Congenital Inferred relationship Some 1
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) Occurrence True Congenital Inferred relationship Some 1
Reticular dysgenesis Occurrence True Congenital Inferred relationship Some 3
Severe combined immunodeficiency with reticular dysgenesis (disorder) Occurrence True Congenital Inferred relationship Some 5
Wiskott-Aldrich autosomal dominant variant syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Reticular dysgenesis with congenital aleucocytosis Occurrence True Congenital Inferred relationship Some 4
PEX5 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX6 deficiency Occurrence True Congenital Inferred relationship Some 1
Beta chain electron transfer flavoprotein deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Alpha chain electron transfer flavoprotein deficiency Occurrence True Congenital Inferred relationship Some 1
Severe infantile form of carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Some 1
PEX1 deficiency Occurrence True Congenital Inferred relationship Some 1
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency Occurrence True Congenital Inferred relationship Some 1
PEX10 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX13 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX12 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX16 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX14 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX26 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX3 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX19 deficiency Occurrence True Congenital Inferred relationship Some 1
PEX2 deficiency Occurrence True Congenital Inferred relationship Some 1
Non-syndromic mitochondrial sensorineural deafness (disorder) Occurrence True Congenital Inferred relationship Some 1
Neonatal form of carnitine palmitoyltransferase II deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Myopathic form of carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex IV assembly gene defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex II structural subunit gene defect Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex III assembly gene defect Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex II assembly gene defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex I structural subunit gene defect Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex I assembly gene defect Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex III structural subunit gene defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type IIC (disorder) Occurrence True Congenital Inferred relationship Some 1
Hereditary hemorrhagic telangiectasia of gingiva Occurrence True Congenital Inferred relationship Some 1
Hereditary hemorrhagic telangiectasia of gingiva Occurrence True Congenital Inferred relationship Some 2
Osteogenesis imperfecta, type IV B Occurrence True Congenital Inferred relationship Some 3
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis with osteopoikilosis Occurrence True Congenital Inferred relationship Some 1
Melorheostosis with osteopoikilosis Occurrence True Congenital Inferred relationship Some 2
Hallermann Streiff like syndrome Occurrence True Congenital Inferred relationship Some 1
Hallermann Streiff like syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Sanjad Sakati syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Sanjad Sakati syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Typical nemaline myopathy Occurrence True Congenital Inferred relationship Some 1
Actin accumulation myopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Intermediate nemaline myopathy Occurrence True Congenital Inferred relationship Some 1
Severe congenital nemaline myopathy Occurrence True Congenital Inferred relationship Some 1
Amish nemaline myopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Posterior meningocele Occurrence True Congenital Inferred relationship Some 1
Posterior meningocele Occurrence True Congenital Inferred relationship Some 2
Posterior meningocele Occurrence True Congenital Inferred relationship Some 3
Microform holoprosencephaly Occurrence True Congenital Inferred relationship Some 1
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Occurrence True Congenital Inferred relationship Some 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive dysgenesis of anterior segment of eye Occurrence True Congenital Inferred relationship Some 1
X-linked dominant erythropoietic protoporphyria Occurrence True Congenital Inferred relationship Some 1
Familial cavitary optic disc anomaly (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital portosystemic shunt Occurrence False Congenital Inferred relationship Some 1
Congenital portosystemic shunt Occurrence False Congenital Inferred relationship Some 2
Combined immunodeficiency, enteropathy spectrum Occurrence True Congenital Inferred relationship Some 2
QRSL1-related combined oxidative phosphorylation defect Occurrence True Congenital Inferred relationship Some 2
Hyaline fibromatosis syndrome Occurrence True Congenital Inferred relationship Some 2
Infantile systemic hyalinosis Occurrence True Congenital Inferred relationship Some 4
Short stature, advanced bone age, early-onset osteoarthritis syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3

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