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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 lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of lateral fold of hallux Occurrence True Congenital Inferred relationship Some 1
Congenital distichiasis of bilateral eyelashes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital distichiasis of bilateral eyelashes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital distichiasis of bilateral eyelashes (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital distichiasis of bilateral eyelashes (disorder) Occurrence True Congenital Inferred relationship Some 4
Congenital instability of spine Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of bilateral lower limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Occurrence True Congenital Inferred relationship Some 3
Deficient mural leaflet of left ventricular component of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of bilateral knees (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of bilateral knees (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of lobe of ear Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital entropion Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital entropion Occurrence True Congenital Inferred relationship Some 2
Congenital crumpled ear Occurrence True Congenital Inferred relationship Some 1
Congenital coronal cleft of vertebra (disorder) Occurrence True Congenital Inferred relationship Some 1
Cornea plana of bilateral corneas (disorder) Occurrence True Congenital Inferred relationship Some 1
Cornea plana of bilateral corneas (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital stenosis of spinal canal (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital regurgitation of truncal valve Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal retraction of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal retraction of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital corneal opacity Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital corneal opacity Occurrence True Congenital Inferred relationship Some 2
Congenital malalignment of great toenail (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital refluxing megaureter Occurrence True Congenital Inferred relationship Some 1
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 4
Congenital lobar emphysema of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital lobar emphysema of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital lobar emphysema of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital lobar emphysema of bilateral lungs (disorder) Occurrence True Congenital Inferred relationship Some 4
Congenital macrophthalmos of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital macrophthalmos of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular junction with spontaneous fibrous closure of atrioventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Occurrence True Congenital Inferred relationship Some 3
Congenital absence of seminal vesicle (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 3
Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Occurrence True Congenital Inferred relationship Some 2
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Occurrence False Congenital Inferred relationship Some 3
Chromosome 2q37 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. Occurrence True Congenital Inferred relationship Some 1
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. Occurrence False Congenital Inferred relationship Some 2
Bartter syndrome type 4a (disorder) Occurrence True Congenital Inferred relationship Some 4
Bartter syndrome type 4 Occurrence True Congenital Inferred relationship Some 2
Neuronal ceroid lipofuscinosis 8 Occurrence True Congenital Inferred relationship Some 1
Anophthalmos of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Anophthalmos of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. Occurrence False Congenital Inferred relationship Some 9
Camptodactyly of bilateral toes (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptodactyly of bilateral fingers Occurrence True Congenital Inferred relationship Some 1
Camptodactyly of bilateral fingers Occurrence True Congenital Inferred relationship Some 2
Camptodactyly of bilateral toes (disorder) Occurrence True Congenital Inferred relationship Some 2
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital absence of epiglottis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of all bilateral toes Occurrence True Congenital Inferred relationship Some 1
Congenital absence of all bilateral toes Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of left eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of right eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of bilateral corneas Occurrence True Congenital Inferred relationship Some 1
Congenital structural abnormality of bilateral corneas Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of bilateral retinas (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral retinas (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital combined form cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital combined form cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hamartoma of bilateral irises (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hamartoma of bilateral irises (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital aniridia of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital aniridia of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left pupil Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral pupils (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral pupils (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of right pupil Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right sclera (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of left sclera (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral sclerae (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bilateral sclerae (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital ocular melanocytosis of left eye Occurrence True Congenital Inferred relationship Some 1
Congenital ocular melanocytosis of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital ocular melanocytosis of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital opacity of cornea of left eye Occurrence True Congenital Inferred relationship Some 1
Congenital ocular melanocytosis of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital opacity of cornea of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital lumbar spondylolisthesis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of retinal pigment epithelium of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of retinal pigment epithelium of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hypertrophy of retinal pigment epithelium of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of retinal pigment epithelium of right eye Occurrence True Congenital Inferred relationship Some 1
Congenital nuclear cataract of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital nuclear cataract of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital zonular cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital zonular cataract of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2

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