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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
Congenital dislocation of head of bilateral radii Occurrence True Congenital Inferred relationship Some 2
Congenital malformation of bone of thorax (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hyperlordosis deformity of thoracic and lumbar spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hyperlordosis deformity of thoracic and lumbar spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hyperlordosis deformity of lumbar spine (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. Occurrence True Congenital Inferred relationship Some 2
Congenital contracture of bilateral gastrocnemius Occurrence True Congenital Inferred relationship Some 2
Neonatal jaundice with congenital hypothyroidism Occurrence True Congenital Inferred relationship Some 3
Congenital left coxa valga (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital right coxa valga (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital left cubitus valgus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital right cubitus valgus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital bilateral cubitus valgus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital bilateral cubitus valgus (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital discoid meniscus of bilateral knees (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital discoid meniscus of bilateral knees (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital zonular cataract of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital zonular cataract of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of bilateral orbits proper (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of bilateral orbits proper (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital structural abnormality of left orbit proper (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of right orbit Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of ciliary body (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of left cornea (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of right cornea (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital chorioretinal degeneration of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital chorioretinal degeneration of left eye (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital chorioretinal degeneration of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital chorioretinal degeneration of right eye Occurrence True Congenital Inferred relationship Some 2
Congenital chorioretinal degeneration of bilateral eyes Occurrence True Congenital Inferred relationship Some 1
Congenital chorioretinal degeneration of bilateral eyes Occurrence True Congenital Inferred relationship Some 2
Congenital chorioretinal degeneration of bilateral eyes Occurrence True Congenital Inferred relationship Some 3
Congenital chorioretinal degeneration of bilateral eyes Occurrence True Congenital Inferred relationship Some 4
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported. Occurrence True Congenital Inferred relationship Some 4
Congenital vitreous opacity of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital vitreous opacity of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital vitreous opacity of bilateral eyes Occurrence True Congenital Inferred relationship Some 1
Congenital vitreous opacity of bilateral eyes Occurrence True Congenital Inferred relationship Some 2
Congenital hamartoma of iris of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hamartoma of iris of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hamartoma of iris (disorder) Occurrence True Congenital Inferred relationship Some 1
Dermal melanocytic hamartoma (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Occurrence True Congenital Inferred relationship Some 1
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. Occurrence True Congenital Inferred relationship Some 1
Stromal cell hyperplasia in androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Some 2
Testicular lesion in androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Some 2
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Occurrence True Congenital Inferred relationship Some 1
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Occurrence True Congenital Inferred relationship Some 2
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Occurrence True Congenital Inferred relationship Some 3
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Occurrence True Congenital Inferred relationship Some 4
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Occurrence True Congenital Inferred relationship Some 1
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Occurrence True Congenital Inferred relationship Some 2
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Occurrence True Congenital Inferred relationship Some 3
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Occurrence True Congenital Inferred relationship Some 4
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Occurrence True Congenital Inferred relationship Some 1
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Occurrence True Congenital Inferred relationship Some 2
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Occurrence True Congenital Inferred relationship Some 3
Supernumerary eye muscle of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Supernumerary eye muscle of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Supernumerary eye muscle of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Supernumerary eye muscle of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 3
Deficiency of Xaa-Pro dipeptidase Occurrence True Congenital Inferred relationship Some 1
Congenital blepharophimosis of left palpebral fissure (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital blepharophimosis of right palpebral fissure (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft lip nasal deformity Occurrence True Congenital Inferred relationship Some 1
Cleft lip nasal deformity Occurrence True Congenital Inferred relationship Some 2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Occurrence True Congenital Inferred relationship Some 1
An autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development followed by decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. Caused by homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. Occurrence True Congenital Inferred relationship Some 2
Cholestanol storage disease Occurrence True Congenital Inferred relationship Some 4
Xanthoma due to lipid storage disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Cystic hamartoma of lung and kidney Occurrence True Congenital Inferred relationship Some 1
Cystic hamartoma of lung and kidney Occurrence True Congenital Inferred relationship Some 2
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Occurrence True Congenital Inferred relationship Some 5
Congenital glenoid dysplasia of left scapula (disorder) Occurrence True Congenital Inferred relationship Some 1
Monostotic fibrous dysplasia of humerus (disorder) Occurrence True Congenital Inferred relationship Some 1
Monostotic fibrous dysplasia of left humerus (disorder) Occurrence True Congenital Inferred relationship Some 1
Monostotic fibrous dysplasia of right humerus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital glenoid dysplasia of right scapula (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital glenoid dysplasia of bilateral scapulae (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital glenoid dysplasia of bilateral scapulae (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of left humerus (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of left humerus (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of right humerus Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of right humerus Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of humerus (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of femur (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of left femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of left femur (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of right femur Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of right femur Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of bilateral femurs (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of bilateral femurs (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of bilateral femurs (disorder) Occurrence True Congenital Inferred relationship Some 3
Melorheostosis of bilateral femurs (disorder) Occurrence True Congenital Inferred relationship Some 4
Melorheostosis of skull Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of skull Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of humerus (disorder) Occurrence True Congenital Inferred relationship Some 3

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