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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

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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