FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
380598010 Congenital en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Congenital Is a Fetal and/or neonatal period true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital dislocation of head of bilateral radii Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malformation of bone of thorax (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hyperlordosis deformity of thoracic and lumbar spine (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hyperlordosis deformity of thoracic and lumbar spine (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hyperlordosis deformity of lumbar spine (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital contracture of bilateral gastrocnemius (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Neonatal jaundice with congenital hypothyroidism (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital left coxa valga (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital right coxa valga Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital left cubitus valgus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital right cubitus valgus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital bilateral cubitus valgus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital bilateral cubitus valgus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital discoid meniscus of bilateral knees Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital discoid meniscus of bilateral knees Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital zonular cataract of left eye (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital zonular cataract of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of bilateral orbits Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of bilateral orbits Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital structural abnormality of left orbit proper (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of right orbit proper (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of ciliary body Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of left cornea Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of right cornea (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital structural abnormality of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital chorioretinal degeneration of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chorioretinal degeneration of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital chorioretinal degeneration of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chorioretinal degeneration of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital chorioretinal degeneration of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chorioretinal degeneration of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital chorioretinal degeneration of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital chorioretinal degeneration of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Papular epidermal naevi with skyline basal cell layers syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital vitreous opacity of left eye (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital vitreous opacity of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital vitreous opacity of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital vitreous opacity of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hamartoma of iris of left eye (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hamartoma of iris of right eye (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hamartoma of iris (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermal melanocytic hamartoma (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A disorder 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 Existential restriction modifier (core metadata concept) 1
Complete androgen insensitivity syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Stromal cell hyperplasia in androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Testicular lesion in androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
ALDH18A1-related de Barsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
ALDH18A1-related de Barsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
ALDH18A1-related de Barsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
ALDH18A1-related de Barsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Supernumerary eye muscle of right eye (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Supernumerary eye muscle of left eye Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Supernumerary eye muscle of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Supernumerary eye muscle of bilateral eyes Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Deficiency of Xaa-Pro dipeptidase (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital blepharophimosis of left palpebral fissure (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital blepharophimosis of right palpebral fissure Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft lip with nasal deformity (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft lip with nasal deformity (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Neuronal ceroid lipofuscinosis type 6A (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholestanol storage disease Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Xanthoma due to lipid storage disease (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Cystic hamartoma of lung and kidney Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Cystic hamartoma of lung and kidney Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised 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 Existential restriction modifier (core metadata concept) 5
Congenital glenoid dysplasia of left scapula (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of left humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of right humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital glenoid dysplasia of right scapula Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital glenoid dysplasia of bilateral scapulae (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital glenoid dysplasia of bilateral scapulae (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of left humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of left humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of right humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of right humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of femur (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of femur (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of left femur (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of left femur (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of right femur (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of right femur (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of bilateral femurs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bilateral femurs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of bilateral femurs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Melorheostosis of bilateral femurs Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Melorheostosis of skull Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of skull Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of humerus (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3

Start Previous Page 332 of 338 Next End

This concept is not in any reference sets

Back to Start