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
Aberrant insertion of frenum of tongue	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of uvula	Occurrence	False	Congenital	Inferred relationship	Some
Riedel's lobe of liver	Occurrence	False	Congenital	Inferred relationship	Some
Cystic testicular dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Cerebrofacial dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Residual cyst	Occurrence	False	Congenital	Inferred relationship	Some
Sekundært tab af tandbuelængde	Occurrence	False	Congenital	Inferred relationship	Some
Tab af tandbuelængde som følge af kongenit manglende tænder	Occurrence	False	Congenital	Inferred relationship	Some
tab af tandbuelængde som følge af tab af primære tænder	Occurrence	False	Congenital	Inferred relationship	Some
tab af tandbuelængde som følge af tab af permanente tænder	Occurrence	False	Congenital	Inferred relationship	Some
tab af tandbuelængde som følge af dental caries	Occurrence	False	Congenital	Inferred relationship	Some
Excessive dental arch length	Occurrence	False	Congenital	Inferred relationship	Some
21q partial distal trisomy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
21q partial trisomy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Talipes equinus	Occurrence	False	Congenital	Inferred relationship	Some
Acquired myelocele	Occurrence	False	Congenital	Inferred relationship	Some
Intern malleoltorsion	Occurrence	False	Congenital	Inferred relationship	Some
Ekstern malleoltorsion	Occurrence	False	Congenital	Inferred relationship	Some
Congenital forefoot varus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital rearfoot varus	Occurrence	False	Congenital	Inferred relationship	Some
Late congenital syphilitic meningitis	Occurrence	False	Congenital	Inferred relationship	Some
A paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood.	Occurrence	False	Congenital	Inferred relationship	Some
Neuroaxonal leukodystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Type III transitional Pelizaeus-Merzbacher disease	Occurrence	False	Congenital	Inferred relationship	Some	4
Type IV adult Pelizaeus-Merzbacher disease	Occurrence	False	Congenital	Inferred relationship	Some	4
Type V atypical Pelizaeus-Merzbacher disease	Occurrence	False	Congenital	Inferred relationship	Some	4
Type VI Cockayne Pelizaeus-Merzbacher disease	Occurrence	False	Congenital	Inferred relationship	Some	4
A mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA.	Occurrence	False	Congenital	Inferred relationship	Some
Familial febrile convulsions	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anosmia	Occurrence	False	Congenital	Inferred relationship	Some
Tilted optic disc	Occurrence	False	Congenital	Inferred relationship	Some
synsnervepapilhul	Occurrence	False	Congenital	Inferred relationship	Some
Myelinated nerve fibers of optic disc	Occurrence	False	Congenital	Inferred relationship	Some
kongenitte forstyrrelser af øjen- og øjenlågsbevægelser	Occurrence	False	Congenital	Inferred relationship	Some
Congenital failure of eye elevation	Occurrence	False	Congenital	Inferred relationship	Some
Congenital nuclear ophthalmoplegia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital disorder of facial nerve	Occurrence	False	Congenital	Inferred relationship	Some
Congenital facial nerve palsy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital polyneuropathy	Occurrence	False	Congenital	Inferred relationship	Some	2
kongenit neuropati med kongenit multipel artrogrypose	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Occurrence	False	Congenital	Inferred relationship	Some
Late congenital syphilitic polyneuropathy	Occurrence	False	Congenital	Inferred relationship	Some
Infantile botulism	Occurrence	False	Congenital	Inferred relationship	Some
Sene sekundære abnormiteter i centralnervesystemet	Occurrence	False	Congenital	Inferred relationship	Some
Multicystic encephalomalacia	Occurrence	False	Congenital	Inferred relationship	Some
Periventricular leucomalacia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pseudobulbar palsy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital dysphasia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital expressive dysphasia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital receptive dysphasia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital talipes calcaneus	Occurrence	False	Congenital	Inferred relationship	Some
Acquired anophthalmos	Occurrence	False	Congenital	Inferred relationship	Some
Lattice corneal dystrophy, isolated form	Occurrence	False	Congenital	Inferred relationship	Some
Traumatic aniridia	Occurrence	False	Congenital	Inferred relationship	Some
Laurence-Moons syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Universelt fibrosesyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of pinna	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cholesteatoma	Occurrence	False	Congenital	Inferred relationship	Some
Structural anomaly of the cochlea and vestibular labyrinth	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia of the cochlea and vestibular labyrinth	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of labyrinth	Occurrence	False	Congenital	Inferred relationship	Some
Incomplete formation of bony cochlea	Occurrence	False	Congenital	Inferred relationship	Some
Mondini defect	Occurrence	False	Congenital	Inferred relationship	Some
Dilatation of the vestibular aqueduct	Occurrence	False	Congenital	Inferred relationship	Some
Absence of semicircular canal	Occurrence	False	Congenital	Inferred relationship	Some
Dilatation of semicircular canal	Occurrence	False	Congenital	Inferred relationship	Some
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait.	Occurrence	False	Congenital	Inferred relationship	Some
atresia choanae med CHARGE-syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Agenesis of nasal cartilages	Occurrence	False	Congenital	Inferred relationship	Some
Nasal dermoid	Occurrence	False	Congenital	Inferred relationship	Some
Median nasal dermoid fistula	Occurrence	False	Congenital	Inferred relationship	Some
Bifid epiglottis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital laryngeal abductor palsy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital laryngeal adductor palsy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cleft larynx	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cystic bronchiectasis	Occurrence	False	Congenital	Inferred relationship	Some
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Occurrence	False	Congenital	Inferred relationship	Some
Immotile cilia syndrome due to defective radial spokes	Occurrence	False	Congenital	Inferred relationship	Some
Immotile cilia syndrome due to excessively long cilia	Occurrence	False	Congenital	Inferred relationship	Some
Young's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Rutland ciliary disorientation syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Pulmonary tuberous sclerosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Pulmonary lipid storage disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital tracheal fistula	Occurrence	False	Congenital	Inferred relationship	Some
Infected bronchogenic cyst	Occurrence	False	Congenital	Inferred relationship	Some
Post-infarction ventricular septal defect	Occurrence	False	Congenital	Inferred relationship	Some
Calcific aortic stenosis - bicuspid valve	Occurrence	False	Congenital	Inferred relationship	Some
Ductus arteriosus aneurysm	Occurrence	False	Congenital	Inferred relationship	Some
Capillary malformation	Occurrence	False	Congenital	Inferred relationship	Some
Arterial malformation	Occurrence	False	Congenital	Inferred relationship	Some
Hypoplasia of artery	Occurrence	False	Congenital	Inferred relationship	Some
Persistence of primitive artery	Occurrence	False	Congenital	Inferred relationship	Some
Persistent cerebral embryonic artery	Occurrence	False	Congenital	Inferred relationship	Some
Venous malformation	Occurrence	False	Congenital	Inferred relationship	Some
Venous valvular anomaly	Occurrence	False	Congenital	Inferred relationship	Some
Deep vein aplasia	Occurrence	False	Congenital	Inferred relationship	Some
Deep vein hypoplasia	Occurrence	False	Congenital	Inferred relationship	Some
Ectactic vein	Occurrence	False	Congenital	Inferred relationship	Some
True congenital varicose veins	Occurrence	False	Congenital	Inferred relationship	Some
Spongy venous malformation	Occurrence	False	Congenital	Inferred relationship	Some
Splenoportal vascular anomaly	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)