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
Congenital myotonic dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Juvenile idiopathic generalized osteoporosis	Occurrence	False	Congenital	Inferred relationship	Some
Arthrogryposis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Chronic congenital cytomegalic inclusion disease	Occurrence	False	Congenital	Inferred relationship	Some
Juvenile tabes dorsalis	Occurrence	False	Congenital	Inferred relationship	Some
Sen kongenit neurovaskulær syfilis	Occurrence	False	Congenital	Inferred relationship	Some
Hutchinson's triad	Occurrence	False	Congenital	Inferred relationship	Some
Kyphoscoliosis deformity of spine	Occurrence	False	Congenital	Inferred relationship	Some
DeSanctis-Cacchione syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Sjögren-Larsson syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.	Occurrence	False	Congenital	Inferred relationship	Some
Multiple lentigines syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Leprechaunism syndrome	Occurrence	False	Congenital	Inferred relationship	Some
8q partial trisomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	Occurrence	False	Congenital	Inferred relationship	Some
Malignant atrophic papulosis	Occurrence	False	Congenital	Inferred relationship	Some
Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion.	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome X	Occurrence	False	Congenital	Inferred relationship	Some
Syndactyly	Occurrence	False	Congenital	Inferred relationship	Some
Adactylia	Occurrence	False	Congenital	Inferred relationship	Some
Longitudinal deficiency of tibia AND/OR fibula	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of nose	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cystic adenomatoid malformation of lung	Occurrence	False	Congenital	Inferred relationship	Some
Truncus arteriosus, Edwards' type IV	Occurrence	False	Congenital	Inferred relationship	Some
Rudimentær venstre hjerteventrikel	Occurrence	False	Congenital	Inferred relationship	Some
Right aortic arch	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of pulmonary veins	Occurrence	False	Congenital	Inferred relationship	Some
Total anomalous pulmonary venous return	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of breast	Occurrence	False	Congenital	Inferred relationship	Some
Horner's teeth	Occurrence	False	Congenital	Inferred relationship	Some
Posterior crossbite	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of salivary gland (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital diverticulum of pharynx	Occurrence	False	Congenital	Inferred relationship	Some
Congenital prolapsed rectum	Occurrence	False	Congenital	Inferred relationship	Some
Congenital rectovaginal fistula	Occurrence	False	Congenital	Inferred relationship	Some
Congenital dilatation of lobar intrahepatic bile duct	Occurrence	False	Congenital	Inferred relationship	Some
Male pseudohermaphroditism	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit anomali i reproduktionsapparatet	Occurrence	False	Congenital	Inferred relationship	Some
Embryonic cyst of epoophoron	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of vulva	Occurrence	False	Congenital	Inferred relationship	Some
Congenital lateral curvature of penis	Occurrence	False	Congenital	Inferred relationship	Some
Dyke-Davidoff-Masson syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Agenesis of nerve	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of ear with impairment of hearing	Occurrence	False	Congenital	Inferred relationship	Some
Congenital fistula of auricle	Occurrence	False	Congenital	Inferred relationship	Some
Cephalodiprosopus	Occurrence	False	Congenital	Inferred relationship	Some
Paraumbilical hernia with gangrene	Occurrence	False	Congenital	Inferred relationship	Some
Chemically-induced lipidosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysmorphic sialidosis, juvenile form	Occurrence	False	Congenital	Inferred relationship	Some	3
Mukolipidose IV	Occurrence	False	Congenital	Inferred relationship	Some
Tay-Sachs disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Homozygous porphyria cutanea tarda	Occurrence	False	Congenital	Inferred relationship	Some
Porphyria caused by toxic effect of substance (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa, autosomal dominant	Occurrence	False	Congenital	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
akatalasæmi	Occurrence	False	Congenital	Inferred relationship	Some
Chédiak-Higashi syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Saccharopinuria (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Sammenvoksede tvillinger, der forårsager mekanisk misforhold	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stricture of osseous meatus of middle ear	Occurrence	False	Congenital	Inferred relationship	Some
Syringomyelia	Occurrence	False	Congenital	Inferred relationship	Some
Walker-Warburg congenital muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Muscle-eye-brain disease, congenital muscular dystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atransferrinaemia	Occurrence	True	Congenital	Inferred relationship	Some	3
hereditær non-sfærocytisk hæmolytisk anæmi forårsaget af aldolase A-mangel	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Reticular dysgenesis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
SCID due to absent IL-2 receptor	Occurrence	True	Congenital	Inferred relationship	Some	2
Brown oculocutaneous albinism	Occurrence	False	Congenital	Inferred relationship	Some
Glycogen storage disease, type IV	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of anus	Occurrence	False	Congenital	Inferred relationship	Some
Hydromyelia	Occurrence	False	Congenital	Inferred relationship	Some	4
Chronic granulomatous disease	Occurrence	False	Congenital	Inferred relationship	Some
Retinal arteriovenous dilatation	Occurrence	False	Congenital	Inferred relationship	Some
Retinal arteriovenous shunt	Occurrence	False	Congenital	Inferred relationship	Some
Retinalt varikøst aneurisme	Occurrence	False	Congenital	Inferred relationship	Some
vaskulær anomali af synsnervepapil	Occurrence	False	Congenital	Inferred relationship	Some
Cilioretinal vessels	Occurrence	False	Congenital	Inferred relationship	Some
Cilioretinal artery	Occurrence	False	Congenital	Inferred relationship	Some
Retinociliary vein	Occurrence	False	Congenital	Inferred relationship	Some
Opticociliary vessels	Occurrence	False	Congenital	Inferred relationship	Some
Raised birthmark	Occurrence	False	Congenital	Inferred relationship	Some
Flat birthmark	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of pharynx	Occurrence	False	Congenital	Inferred relationship	Some
Transient hyperammonemia in infancy	Occurrence	False	Congenital	Inferred relationship	Some
Aberrerende arterie	Occurrence	False	Congenital	Inferred relationship	Some
Wharton's jelly excessive	Occurrence	False	Congenital	Inferred relationship	Some
Okulokutan albinoidisme	Occurrence	False	Congenital	Inferred relationship	Some
Right ventricular fibromuscular infundibular stenosis	Occurrence	False	Congenital	Inferred relationship	Some
Right ventricular muscular infundibular stenosis	Occurrence	False	Congenital	Inferred relationship	Some
Bicuspid doming of aortic cusp	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malformation of angle of anterior chamber of eye	Occurrence	False	Congenital	Inferred relationship	Some
Goniodysgenesis	Occurrence	False	Congenital	Inferred relationship	Some
Barkan membrane	Occurrence	False	Congenital	Inferred relationship	Some
Myofibromatosis	Occurrence	False	Congenital	Inferred relationship	Some
Fanconi-de Toni-Debre syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Neural tube defect	Occurrence	False	Congenital	Inferred relationship	Some	3
Frontal encephalocele	Occurrence	False	Congenital	Inferred relationship	Some
Frontoethmoidal encephalocele	Occurrence	False	Congenital	Inferred relationship	Some
Nasofrontal encephalocele	Occurrence	False	Congenital	Inferred relationship	Some
Nasopharyngeal encephalocele	Occurrence	False	Congenital	Inferred relationship	Some

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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)