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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
Retinitis pigmentosa-deafness-ataxia syndrome Occurrence True Congenital Inferred relationship Some 4
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 1
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. Occurrence True Congenital Inferred relationship Some 1
Complete congenital duodenal obstruction Occurrence True Congenital Inferred relationship Some 1
Hemicephaly Occurrence True Congenital Inferred relationship Some 1
Congenital spondylolisthesis Occurrence True Congenital Inferred relationship Some 1
Femoral hypoplasia - unusual facies syndrome Occurrence True Congenital Inferred relationship Some 2
Hereditary elliptocytosis due to glycophorin C deficiency Occurrence True Congenital Inferred relationship Some 4
syndrome d'Ehlers-Danlos de type cyphoscoliotique Occurrence False Congenital Inferred relationship Some 1
Frontal dysostosis Occurrence True Congenital Inferred relationship Some 1
Duplication of teeth Occurrence False Congenital Inferred relationship Some 1
Lateral accessory root canals Occurrence False Congenital Inferred relationship Some 1
Intrinsic enamel discoloration of erythroblastosis fetalis Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta, hypocalcification type Occurrence True Congenital Inferred relationship Some 1
Precocious exfoliation due to ectopic eruption of proximate tooth (disorder) Occurrence False Congenital Inferred relationship Some 1
Leprechaunism syndrome Occurrence True Congenital Inferred relationship Some 2
Leprechaunism syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital cleft of cardiac valve Occurrence True Congenital Inferred relationship Some 1
Congenital neurogenic ileus syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis Occurrence False Congenital Inferred relationship Some 2
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Occurrence True Congenital Inferred relationship Some 2
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Occurrence True Congenital Inferred relationship Some 1
Talipes valgus of left foot (disorder) Occurrence True Congenital Inferred relationship Some 2
Talipes valgus of right foot (disorder) Occurrence True Congenital Inferred relationship Some 2
Fibrous dysplasia of bone Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of left upper limb Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of left lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of right upper limb Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of right lower limb Occurrence True Congenital Inferred relationship Some 1
Monostotic fibrous dysplasia of periradicular alveolar bone Occurrence True Congenital Inferred relationship Some 1
Synechia vulvae Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of right lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Brachydactyly of toes of left foot Occurrence True Congenital Inferred relationship Some 1
Bilateral brachydactyly of toes Occurrence True Congenital Inferred relationship Some 2
Bilateral brachydactyly of toes Occurrence True Congenital Inferred relationship Some 1
Brachydactyly of toes of right foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of right Gartner's duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of left Gartner's duct Occurrence True Congenital Inferred relationship Some 1
Infantile esotropia of right eye Occurrence False Congenital Inferred relationship Some 1
Infantile esotropia of left eye Occurrence False Congenital Inferred relationship Some 1
syndrome d'Ehlers-Danlos type 2 Occurrence False Congenital Inferred relationship Some 1
Single coronary artery Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava Occurrence True Congenital Inferred relationship Some 1
Vascular Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital duodenal obstruction Occurrence True Congenital Inferred relationship Some 1
Schinzel-Giedion syndrome Occurrence True Congenital Inferred relationship Some 4
Oguchi's disease Occurrence True Congenital Inferred relationship Some 1
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Hereditary elliptocytosis with transient poikilocytosis Occurrence True Congenital Inferred relationship Some 4
Inherited renal tubule insufficiency with cholestatic jaundice Occurrence True Congenital Inferred relationship Some 2
Inherited renal tubule insufficiency with cholestatic jaundice Occurrence True Congenital Inferred relationship Some 1
Plantarflexed cuboid Occurrence True Congenital Inferred relationship Some 1
Cervical hydromyelocele Occurrence False Congenital Inferred relationship Some 1
Cervical hydromyelocele Occurrence False Congenital Inferred relationship Some 3
Thoracic hydromyelocele Occurrence False Congenital Inferred relationship Some 1
Thoracic hydromyelocele Occurrence False Congenital Inferred relationship Some 3
Lumbar hydromyelocele Occurrence False Congenital Inferred relationship Some 1
Lumbar hydromyelocele Occurrence False Congenital Inferred relationship Some 3
Thoracic spina bifida without hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Thoracic spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Axenfeld anomaly Occurrence True Congenital Inferred relationship Some 2
Irido-trabecular dysgenesis Occurrence True Congenital Inferred relationship Some 2
Female epispadias (disorder) Occurrence True Congenital Inferred relationship Some 1
Transverse arrest carpal level Occurrence True Congenital Inferred relationship Some 1
Transverse arrest metacarpal first ray Occurrence True Congenital Inferred relationship Some 1
Failure of soft tissue differentiation of lower limb Occurrence True Congenital Inferred relationship Some 1
Failure of differentiation of bones of lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital contractural arachnodactyly Occurrence True Congenital Inferred relationship Some 2
Congenital viral hepatitis Occurrence True Congenital Inferred relationship Some 1
Late congenital syphilitic meningitis Occurrence True Congenital Inferred relationship Some 1
Fusion of kidneys (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital subglottic web of larynx Occurrence True Congenital Inferred relationship Some 1
Congenital absence of esophagus with tracheo-esophageal fistula Occurrence True Congenital Inferred relationship Some 1
Undescended testicle Occurrence True Congenital Inferred relationship Some 1
Rubella retinopathy Occurrence True Congenital Inferred relationship Some 1
A rare late-onset neurodegenerative disease characterised by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction. Occurrence False Congenital Inferred relationship Some 1
Late congenital syphilitic oculopathy Occurrence True Congenital Inferred relationship Some 1
Cleft uvula Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of right external auditory canal (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of left external auditory canal (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of bilateral external auditory canals (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of bilateral external auditory canals (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital subluxation of carpus Occurrence True Congenital Inferred relationship Some 1
Ostium primum defect Occurrence True Congenital Inferred relationship Some 1
Hereditary elliptocytosis Occurrence True Congenital Inferred relationship Some 1
Thoracic spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Cervical spina bifida without hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Cervical spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Coloboma of lens Occurrence True Congenital Inferred relationship Some 1
Pentalogy of Fallot Occurrence True Congenital Inferred relationship Some 1
Fusion of lobes of lung Occurrence True Congenital Inferred relationship Some 1
Simple syndactyly lesser toes Occurrence True Congenital Inferred relationship Some 1
Overgrowth of whole upper limb Occurrence True Congenital Inferred relationship Some 1
Overgrowth of partial upper limb Occurrence True Congenital Inferred relationship Some 1
Undergrowth of whole hand Occurrence True Congenital Inferred relationship Some 1
Triphalangeal great toe Occurrence True Congenital Inferred relationship Some 1
Natal tooth Occurrence True Congenital Inferred relationship Some 1
Neuronal choristoma Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence True Congenital Inferred relationship Some 1

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