255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\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	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
12q15q21.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
12q15q21.1 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Deafness, vitiligo, achalasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
SCARF syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
SCARF syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
SCARF syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
SCARF syndrome	Occurrence	False	Congenital	Inferred relationship	Some	8
Glucocorticoid deficiency with achalasia	Occurrence	True	Congenital	Inferred relationship	Some	3
Deafness, vitiligo, achalasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Pyridoxine-dependent epilepsy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Pyridoxine-dependent epilepsy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Congenital hydrothorax (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Tracheo-esophageal fistula without atresia of esophagus	Occurrence	False	Congenital	Inferred relationship	Some	3
Tracheo-esophageal fistula without atresia of esophagus	Occurrence	False	Congenital	Inferred relationship	Some	4
Progressive supranuclear palsy	Occurrence	False	Congenital	Inferred relationship	Some	2
Progressive supranuclear palsy	Occurrence	False	Congenital	Inferred relationship	Some	3
Schmitt Gillenwater Kelly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital porencephalic cyst (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of right optic nerve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of left optic nerve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of bilateral optic nerves (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hypoplasia of bilateral optic nerves (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Imperforate hymen	Occurrence	False	Congenital	Inferred relationship	Some	2
Wolffian duct cyst - female	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital anomaly of mother complicating pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of vagina in mother complicating pregnancy	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of vulva in mother complicating pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital chorioretinal coloboma of right eye (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital chorioretinal coloboma of left eye (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital chorioretinal coloboma of bilateral eyes (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
icke-rupturerat medfött cerebralt aneurysm	Occurrence	False	Congenital	Inferred relationship	Some	1
Chromosome 1p36 deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
5q35 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of bone of shoulder girdle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of toe (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital onychoatrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital mandibular asymmetry	Occurrence	True	Congenital	Inferred relationship	Some	1
Primary hyperoxaluria type III (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Elongated left ramus of mandible	Occurrence	True	Congenital	Inferred relationship	Some	1
Elongated right ramus of mandible	Occurrence	True	Congenital	Inferred relationship	Some	1
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	10
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Neonatal intestinal perforation co-occurrent and due to in utero intraluminal obstruction (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
2-methyl-3-hydroxybutyric aciduria (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Simple syndactyly of toes of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Simple syndactyly of toes of bilateral feet (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
neonatal tarmperforation med medfödd stenos i tarmkanalen	Occurrence	False	Congenital	Inferred relationship	Some	4
Symptomatic late congenital syphilis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fetal genitourinary abnormality (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital atresia of left external ear (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fundus coloboma	Occurrence	True	Congenital	Inferred relationship	Some	1
Coloboma of choroid	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital chorioretinal coloboma of right eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital chorioretinal coloboma of left eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital chorioretinal coloboma of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital chorioretinal coloboma of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Malformation of central nervous system of fetus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary spastic paraplegia	Occurrence	False	Congenital	Inferred relationship	Some	2
ärftlig sensorisk och motorisk neuropati, typ V	Occurrence	False	Congenital	Inferred relationship	Some	1
Pure hereditary spastic paraplegia	Occurrence	False	Congenital	Inferred relationship	Some	2
Complicated hereditary spastic paraplegia	Occurrence	False	Congenital	Inferred relationship	Some	2
Infantile ascending hereditary spastic paralysis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
spastisk paraplegi, typ 15	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Spastic paraplegia type 7 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 39 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
X-linked spastic paraplegia type 2 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 36 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 4 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 44 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 46 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 53 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 54 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 55 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 57 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 32 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 26 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 23 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 64 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 63 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 61 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Spastic paraplegia with Paget disease of bone syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 18 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 25 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 10 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 6 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Spastic paraplegia with precocious puberty syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 29 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Occurrence	False	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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)