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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Mitochondrial respiratory chain complex IV assembly gene defect (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial respiratory chain complex II structural subunit gene defect survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial respiratory chain complex III assembly gene defect survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial respiratory chain complex II assembly gene defect (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial respiratory chain complex I structural subunit gene defect survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial respiratory chain complex I assembly gene defect survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial respiratory chain complex III structural subunit gene defect (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Osteogenesis imperfecta type IIC (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hereditary hemorrhagic telangiectasia of gingiva survenue (attribut) True congénital Inferred relationship Some 1
Hereditary hemorrhagic telangiectasia of gingiva survenue (attribut) True congénital Inferred relationship Some 2
Osteogenesis imperfecta, type IV B survenue (attribut) True congénital Inferred relationship Some 3
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Melorheostosis with osteopoikilosis survenue (attribut) True congénital Inferred relationship Some 1
Melorheostosis with osteopoikilosis survenue (attribut) True congénital Inferred relationship Some 2
Hallermann Streiff like syndrome survenue (attribut) True congénital Inferred relationship Some 1
Hallermann Streiff like syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Sanjad Sakati syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Sanjad Sakati syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Typical nemaline myopathy survenue (attribut) True congénital Inferred relationship Some 1
Actin accumulation myopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Intermediate nemaline myopathy survenue (attribut) True congénital Inferred relationship Some 1
Severe congenital nemaline myopathy survenue (attribut) True congénital Inferred relationship Some 1
Amish nemaline myopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Posterior meningocele survenue (attribut) True congénital Inferred relationship Some 1
Posterior meningocele survenue (attribut) True congénital Inferred relationship Some 2
Posterior meningocele survenue (attribut) True congénital Inferred relationship Some 3
Microform holoprosencephaly survenue (attribut) True congénital Inferred relationship Some 1
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome survenue (attribut) True congénital Inferred relationship Some 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome survenue (attribut) True congénital Inferred relationship Some 3
Autosomal recessive dysgenesis of anterior segment of eye survenue (attribut) True congénital Inferred relationship Some 1
X-linked dominant erythropoietic protoporphyria survenue (attribut) True congénital Inferred relationship Some 1
Familial cavitary optic disc anomaly (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital portosystemic shunt (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital portosystemic shunt (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Combined immunodeficiency, enteropathy spectrum survenue (attribut) True congénital Inferred relationship Some 2
QRSL1-related combined oxidative phosphorylation defect survenue (attribut) True congénital Inferred relationship Some 2
Hyaline fibromatosis syndrome survenue (attribut) True congénital Inferred relationship Some 2
Infantile systemic hyalinosis survenue (attribut) True congénital Inferred relationship Some 4
Short stature, advanced bone age, early-onset osteoarthritis syndrome survenue (attribut) True congénital Inferred relationship Some 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
COG2-related congenital disorder of glycosylation survenue (attribut) True congénital Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 4
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 5
Amelia of right lower limb survenue (attribut) True congénital Inferred relationship Some 1
Amelia of left lower limb survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive central core disease survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant central core disease (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of soft tissue survenue (attribut) True congénital Inferred relationship Some 1
Melorheostosis of spine (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Melorheostosis of spine (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Melorheostosis of right foot (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Melorheostosis of right foot (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Melorheostosis of left foot (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Melorheostosis of left foot (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Melorheostosis of right lower leg (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Melorheostosis of right lower leg (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Melorheostosis of left lower leg survenue (attribut) True congénital Inferred relationship Some 1
Melorheostosis of left lower leg survenue (attribut) True congénital Inferred relationship Some 2
Congenital fiber-type disproportion myopathy due to ZAK mutation survenue (attribut) True congénital Inferred relationship Some 1
Congenital fiber-type disproportion myopathy due to SELENON mutation survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital cystic dilatation of common bile duct survenue (attribut) True congénital Inferred relationship Some 1
Central basal perimembranous ventricular septal defect (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Macrodactyly of finger of left hand (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Macrodactyly of finger of right hand (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital short left Achilles tendon survenue (attribut) True congénital Inferred relationship Some 1
Congenital short right Achilles tendon survenue (attribut) True congénital Inferred relationship Some 1
Congenital palsy of trochlear nerve (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lymphedema, posterior choanal atresia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome survenue (attribut) True congénital Inferred relationship Some 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome survenue (attribut) True congénital Inferred relationship Some 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome survenue (attribut) True congénital Inferred relationship Some 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome survenue (attribut) True congénital Inferred relationship Some 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome survenue (attribut) True congénital Inferred relationship Some 5
Severe oculo-renal-cerebellar syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Eye defects, arachnodactyly, cardiopathy syndrome survenue (attribut) True congénital Inferred relationship Some 1
Eye defects, arachnodactyly, cardiopathy syndrome survenue (attribut) True congénital Inferred relationship Some 2
Eye defects, arachnodactyly, cardiopathy syndrome survenue (attribut) True congénital Inferred relationship Some 3
Eye defects, arachnodactyly, cardiopathy syndrome survenue (attribut) True congénital Inferred relationship Some 5
Fryns Smeets Thiry syndrome survenue (attribut) True congénital Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome survenue (attribut) True congénital Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome survenue (attribut) True congénital Inferred relationship Some 3
Microcephalic osteodysplastic primordial dwarfism type II survenue (attribut) True congénital Inferred relationship Some 1

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