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
Holoprosencephaly craniosynostosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 2 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	10
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Aplasia of fibula co-occurrent with complex brachydactyly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Desmin related myopathy with Mallory body-like inclusions (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ischio-vertebral syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Ischio-vertebral syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
brakyolmi typ 1, Toledotyp	Occurrence	False	Congenital	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 4 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 1 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 5 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Deafness craniofacial syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Congenital scoliosis due to bony malformation	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital infection caused by Herpes virus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Microcephalus microcornea syndrome of Seemanova type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Brachydactylous dwarfism Mseleni type	Occurrence	False	Congenital	Inferred relationship	Some	3
mikromeli enligt Fryn	Occurrence	False	Congenital	Inferred relationship	Some	5
Distal arthrogryposis type 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Distal arthrogryposis type 4 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Crane Heise syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Congenital duplication of nose (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital amegakaryocytic thrombocytopenia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Seaver Cassidy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Seaver Cassidy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Seaver Cassidy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
2q31.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
2q31.1 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
mikromeli enligt Fryn	Occurrence	False	Congenital	Inferred relationship	Some	6
Congenital myogenic ptosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalus microcornea syndrome of Seemanova type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital myogenic ptosis	Occurrence	False	Congenital	Inferred relationship	Some	4
Postaxial polydactyly type A (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Postaxial polydactyly type B (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Polydactyly of triphalangeal thumb (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Brachydactyly type A1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly type A4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly type A6 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Proboscis lateralis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplasia of head of femur Meyer type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Smith McCort dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Familial isolated arrhythmogenic right ventricular dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Pseudoaminopterin syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Pseudoaminopterin syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Pseudoaminopterin syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Congenital bowing of long bone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
okulocerebralt dysplastiskt syndrom	Occurrence	False	Congenital	Inferred relationship	Some	2
okulocerebralt dysplastiskt syndrom	Occurrence	False	Congenital	Inferred relationship	Some	3
Lysosomal acid lipase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ring chromosome 8 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Maxillonasal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cataract with aberrant oral frenula and growth delay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cataract with aberrant oral frenula and growth delay syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Cerebellum agenesis with hydrocephaly	Occurrence	True	Congenital	Inferred relationship	Some	2
Cerebellum agenesis with hydrocephaly	Occurrence	False	Congenital	Inferred relationship	Some	3
dyssegmental dysplasi med glaukom	Occurrence	False	Congenital	Inferred relationship	Some	5
dyssegmental dysplasi med glaukom	Occurrence	False	Congenital	Inferred relationship	Some	6
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Lowry Yong syndrome	Occurrence	False	Congenital	Inferred relationship	Some	10
Frontofacionasal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Frontofacionasal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Rubella myocarditis	Occurrence	False	Congenital	Inferred relationship	Some	3
Rubella cataract	Occurrence	False	Congenital	Inferred relationship	Some	3
Progressive congenital rubella encephalomyelitis	Occurrence	False	Congenital	Inferred relationship	Some	3
Progressive congenital rubella encephalomyelitis	Occurrence	False	Congenital	Inferred relationship	Some	6
Postaxial polydactyly type B (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Holoprosencephaly and postaxial polydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Holoprosencephaly and postaxial polydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Ichthyosis cheek eyebrow syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2

Start Previous Page 212 of 330 Next End

This concept is not in any reference sets

Back to Start

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)