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
Double outlet left ventricle	Occurrence	True	Congenital	Inferred relationship	Some	4
Double outlet left ventricle	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital tracheocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopic gray matter in centrum ovale	Occurrence	True	Congenital	Inferred relationship	Some	1
Bohn's nodule (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial anomalous pulmonary venous connection	Occurrence	True	Congenital	Inferred relationship	Some	1
infektion som orsakar kongenital anomali	Occurrence	False	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome, familial joint laxity type	Occurrence	True	Congenital	Inferred relationship	Some	1
Omphalocele - irreducible	Occurrence	True	Congenital	Inferred relationship	Some	2
RAB18, member RAS oncogene family deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
RAB18, member RAS oncogene family deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Warburg micro syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Warburg micro syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Warburg micro syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Cyst of left preauricular region	Occurrence	True	Congenital	Inferred relationship	Some	1
Cyst of right preauricular region	Occurrence	True	Congenital	Inferred relationship	Some	1
Cyst of bilateral preauricular regions (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cyst of bilateral preauricular regions (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Proximal interphalangeal joint symphalangism	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal interphalangeal joint symphalangism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability, craniofacioskeletal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial osteodysplasia Anderson type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial osteodysplasia Anderson type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome spondylocheirodysplastic type	Occurrence	True	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome spondylocheirodysplastic type	Occurrence	True	Congenital	Inferred relationship	Some	1
Postaxial polydactyly, dental, vertebral anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Postaxial polydactyly, dental, vertebral anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Postaxial polydactyly, dental, vertebral anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Thakker Donnai syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 16 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
spondyloepimetafyseal dysplasi, Bieganski-typ	Occurrence	False	Congenital	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Golden type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Zechi Ceide syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Zechi Ceide syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Zechi Ceide syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Zechi Ceide syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Macrosomia, microphthalmia, cleft palate syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital lethal myopathy Compton North type	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lethal myopathy Compton North type	Occurrence	True	Congenital	Inferred relationship	Some	2
Amniotic adhesion	Occurrence	False	Congenital	Inferred relationship	Some	1
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
20p13 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
20p13 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lack of ossification of vomer	Occurrence	True	Congenital	Inferred relationship	Some	2
CK syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Lymphedema hypoparathyroidism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Lack of ossification of premaxilla	Occurrence	True	Congenital	Inferred relationship	Some	2
Multiple lentigines syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
cervikalt spinalt hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital vaginal enterocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital vaginal enterocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal 7q11.23 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal 7q11.23 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
7q31 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
7q31 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Nestor Guillermo progeria syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Nestor Guillermo progeria syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniosynostosis and dental anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniosynostosis and dental anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive frontotemporal pachygyria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
LMNA-related cardiocutaneous progeria syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Distal arthrogryposis type 5D (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Roifman syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Roifman syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 59	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 59	Occurrence	False	Congenital	Inferred relationship	Some	2
hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	2
hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	1
Streak gonad (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hiatus hernia	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hiatus hernia	Occurrence	True	Congenital	Inferred relationship	Some	1
Oligodontia and cancer predisposition syndrome	Occurrence	True	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)