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
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
Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type	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 (disorder)	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 disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised 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. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive.	Occurrence	True	Congenital	Inferred relationship	Some	2
A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised 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. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive.	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
Ehlers-Danlos' syndrom, 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
Cervikalt hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	1
Cervikalt hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	3
Torakalt hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	1
Torakalt hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	3
Lumbalt hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	1
Lumbalt 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	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
kongenit subglottisk sammenvoksning i 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 with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.	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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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)