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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
380598010 Congenital en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital Is a Fetal and/or neonatal period true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital non-dysraphic lipoma of medulla of spinal cord (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malformation of helix (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity of helix Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital adhesion of helix (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL7-related Crisponi/cold-induced sweating-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic neurofibromatosis type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic neurofibromatosis type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic neurofibromatosis type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic neurofibromatosis type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
CHD8 overgrowth syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Dysequilibrium syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse hyperplastic perilobular nephroblastomatosis (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital malformation of angle of anterior chamber of right eye Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of angle of anterior chamber of left eye (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of angle of anterior chamber of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation of angle of anterior chamber of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Glutaryl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital contracture of toe joint of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital contracture of toe joint of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital contracture of toe joint of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated cleft lip (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of bone of forearm (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of bone of left forearm (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of right forearm Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of bone of shoulder girdle (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of bone of left shoulder girdle Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Monostotic fibrous dysplasia of bone of right shoulder girdle (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital contracture of toe joint of bilateral feet Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Full schwannomatosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Full schwannomatosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 7
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 12
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Cardiac urogenital syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Cardiac urogenital syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
CIMDAG syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
CIMDAG syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
CIMDAG syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of left rib Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of left rib Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of right rib Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of right rib Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of rib Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of rib Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of bone of right hand Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bone of right hand Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of bone of hand (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bone of hand (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of bone of left hand Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bone of left hand Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of bone of left forearm Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bone of left forearm Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of bone of right forearm (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bone of right forearm (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of bone of forearm Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bone of forearm Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cubitus varus of left elbow Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cubitus varus of right elbow Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital cubitus varus Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital cubitus varus Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of left zygomatic bone (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of right zygomatic bone (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Kindler epidermolysis bullosa Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital radioulnar synostosis of left forearm (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis of left forearm (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital radioulnar synostosis of right forearm (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis of right forearm (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital bilateral radioulnar synostosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital bilateral radioulnar synostosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital bilateral radioulnar synostosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital bilateral radioulnar synostosis Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of bilateral zygomatic bones (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of bilateral zygomatic bones (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mild hereditary factor IX deficiency disease Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Moderate hereditary factor IX deficiency disease Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A factor activity level <1 percent of normal. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hyperlordosis of lumbosacral spine Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hyperlordosis of lumbosacral spine Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Hemophilia B Leyden (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3

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