255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Occurrence	True	Congenital	Inferred relationship	Some	1
Corrected transposition of great vessels	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemianencephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Macromelia	Occurrence	True	Congenital	Inferred relationship	Some	1
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital tracheomalacia	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopic cilia of eyelid	Occurrence	True	Congenital	Inferred relationship	Some	1
A brain malformation due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical periventricular nodular heterotopia is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.	Occurrence	True	Congenital	Inferred relationship	Some	1
Aplasia of corpus callosum	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida of sacral region (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sacral spina bifida without hydrocephalus - closed	Occurrence	True	Congenital	Inferred relationship	Some	1
11p partial monosomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces.	Occurrence	True	Congenital	Inferred relationship	Some	2
Juvenile GM1 gangliosidosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Adult GM1 gangliosidosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital cutaneous lymphangiectasia	Occurrence	False	Congenital	Inferred relationship	Some	2
Aganglionosis of large intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pulmonary tuberous sclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	Occurrence	True	Congenital	Inferred relationship	Some	4
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital absence of body of uterus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital respiratory biliary fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital respiratory biliary fistula	Occurrence	True	Congenital	Inferred relationship	Some	2
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant.	Occurrence	True	Congenital	Inferred relationship	Some	1
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant.	Occurrence	True	Congenital	Inferred relationship	Some	2
Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation with characteristics of an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Generalized glucocorticoid resistance syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues.	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital arteriovenous malformation of duodenum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex with hypodontia	Occurrence	True	Congenital	Inferred relationship	Some	2
Eisenmenger ventricular septal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.	Occurrence	True	Congenital	Inferred relationship	Some	2
Farber's lipogranulomatosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital Fanconi syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary camptodactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Fabry's disease	Occurrence	False	Congenital	Inferred relationship	Some	1
Melnick-Fraser syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Pulmonic stenosis and congenital nephrosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Senter syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported.	Occurrence	False	Congenital	Inferred relationship	Some	4
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported.	Occurrence	True	Congenital	Inferred relationship	Some	5
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease.	Occurrence	True	Congenital	Inferred relationship	Some	1
A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease.	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniofacial deafness hand syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniofacial deafness hand syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniofacial deafness hand syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Emberger syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Myhre syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	6
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	Occurrence	True	Congenital	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Occurrence	True	Congenital	Inferred relationship	Some	3
Beckwith-Wiedemann syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Fibrous skin tumor of tuberous sclerosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital absence of skin on scalp	Occurrence	True	Congenital	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Barber-Say syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Barber-Say syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Agenesis of bilateral lungs	Occurrence	True	Congenital	Inferred relationship	Some	1
Agenesis of bilateral lungs	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital generalized hypertrichosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.	Occurrence	True	Congenital	Inferred relationship	Some	1
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.	Occurrence	True	Congenital	Inferred relationship	Some	2
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.	Occurrence	True	Congenital	Inferred relationship	Some	3
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Occurrence	True	Congenital	Inferred relationship	Some	6
Aplasia cutis congenita of limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Basal encephalocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Basal encephalocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46 XY disorder of sex development due to maternal ingestion of estrogen (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
46,XX disorder of sex development due to maternal Krukenberg neoplasm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
46,XX disorder of sex development due to maternal adrenal neoplasm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of mitral valve with absent atrioventricular connection	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of mitral valve with absent atrioventricular connection	Occurrence	True	Congenital	Inferred relationship	Some	2
Ablepharon of bilateral eyelids (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ablepharon of bilateral eyelids (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XX disorder of sex development due to maternal androluteoma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
46,XX disorder of sex development due to maternal arrhenoblastoma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Jervell and Lange-Nielsen syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital parachute malformation of right atrioventricular valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital parachute malformation of right atrioventricular valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Constriction ring syndrome of lower limb with amputation	Occurrence	True	Congenital	Inferred relationship	Some	3
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.	Occurrence	True	Congenital	Inferred relationship	Some	2
Blue sclera of bilateral eyes	Occurrence	True	Congenital	Inferred relationship	Some	1
Blue sclera of bilateral eyes	Occurrence	True	Congenital	Inferred relationship	Some	2
Clinodactyly of bilateral toes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Clinodactyly of bilateral toes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral coloboma of macula	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral coloboma of macula	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral coloboma of lens	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral coloboma of lens	Occurrence	True	Congenital	Inferred relationship	Some	2
Developmental anomaly of bilateral pleurae (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Developmental anomaly of bilateral pleurae (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1

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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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)