255399007: congenitaal (kwalificatiewaarde)

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 non-dysraphic lipoma of medulla of spinal cord (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital malformation of helix (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of helix	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital adhesion of helix (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic neurofibromatosis type 1	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic neurofibromatosis type 1	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic neurofibromatosis type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic neurofibromatosis type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
CHD8 overgrowth syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysequilibrium syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Diffuse hyperplastic perilobular nephroblastomatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital malformation of angle of anterior chamber of right eye	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital malformation of angle of anterior chamber of left eye	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital malformation of angle of anterior chamber of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital malformation of angle of anterior chamber of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Glutaryl-CoA dehydrogenase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital contracture of toe joint of right foot	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital contracture of toe joint of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital contracture of toe joint of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated cleft lip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Monostotic fibrous dysplasia of bone of forearm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Monostotic fibrous dysplasia of bone of left forearm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Monostotic fibrous dysplasia of right forearm	Occurrence	True	Congenital	Inferred relationship	Some	1
Monostotic fibrous dysplasia of bone of shoulder girdle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Monostotic fibrous dysplasia of bone of left shoulder girdle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Monostotic fibrous dysplasia of bone of right shoulder girdle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital contracture of toe joint of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Full schwannomatosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Full schwannomatosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	12
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
AMeD syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
AMeD syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Cardiac urogenital syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Cardiac urogenital syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
CIMDAG syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
CIMDAG syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
CIMDAG syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of left rib (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of left rib (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Melorheostosis of right rib (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of right rib (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Melorheostosis of rib	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of rib	Occurrence	True	Congenital	Inferred relationship	Some	2
Melorheostosis of bone of right hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of bone of right hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Melorheostosis of bone of hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of bone of hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Melorheostosis of bone of left hand	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of bone of left hand	Occurrence	True	Congenital	Inferred relationship	Some	2
Melorheostosis of bone of left forearm	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of bone of left forearm	Occurrence	True	Congenital	Inferred relationship	Some	2
Melorheostosis of bone of right forearm	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of bone of right forearm	Occurrence	True	Congenital	Inferred relationship	Some	2
Melorheostosis of bone of forearm	Occurrence	True	Congenital	Inferred relationship	Some	1
Melorheostosis of bone of forearm	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cubitus varus of left elbow (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cubitus varus of right elbow	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital cubitus varus	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital cubitus varus	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hypoplasia of left zygomatic bone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of right zygomatic bone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Kindler epidermolysis bullosa (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital radioulnar synostosis of left forearm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital radioulnar synostosis of left forearm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital radioulnar synostosis of right forearm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital radioulnar synostosis of right forearm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital bilateral radioulnar synostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital bilateral radioulnar synostosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital bilateral radioulnar synostosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital bilateral radioulnar synostosis	Occurrence	True	Congenital	Inferred relationship	Some	4
T-cell negative B-cell positive severe combined immunodeficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of bilateral zygomatic bones (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of bilateral zygomatic bones (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mild hereditary factor IX deficiency disease	Occurrence	True	Congenital	Inferred relationship	Some	3
Moderate hereditary factor IX deficiency disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Severe hereditary factor IX deficiency disease	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital hyperlordosis of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hyperlordosis of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hemophilia B Leyden (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Transitional atrioventricular septal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Transitional atrioventricular septal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Transitional atrioventricular septal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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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
3440841000146116	congenitaal	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3440851000146118	congenitaal (kwalificatiewaarde)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3440861000146115	aangeboren	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)