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
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Occurrence	True	Congenital	Inferred relationship	Some	2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Pancytopenia with developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Piebald trait with neurologic defects syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Peripheral dysostosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Polyglucosan body myopathy type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
FLOTCH syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
FLOTCH syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
SCALP syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
SCALP syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
SCALP syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Dandy-Walker syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Dandy-Walker syndrome with spina bifida	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital retroversion of bilateral femurs (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital retroversion of bilateral femurs (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital genu varum of left knee (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly of finger of right hand	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly of finger of left hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital overriding toes of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital overriding toes of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital overriding toes of bilateral feet (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital overriding toes of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital overriding toes of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital overriding toes of right foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital overriding toes of right foot (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital overriding toes of right foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Brachydactyly of finger of bilateral hands (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly of finger of bilateral hands (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral congenital pes valgo planus of feet	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital pes valgo planus of feet	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital genu varum of right knee	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital overriding toes of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital overriding toes of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital overriding toes of left foot (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Bilateral congenital deformity of feet	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral congenital deformity of feet	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anteversion of left femur (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of right foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anteversion of right femur (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital anteversion of femurs	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital anteversion of femurs	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculopharyngeal muscular dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Calcaneonavicular bar	Occurrence	True	Congenital	Inferred relationship	Some	1
Temtamy preaxial brachydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Temtamy preaxial brachydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Temtamy preaxial brachydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Temtamy preaxial brachydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachytelephalangic chondrodysplasia punctata (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant prognathism of mandible (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Duplication of pituitary gland (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant primary microcephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
12p12.1 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
12p12.1 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
3q26 microduplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
3q26 microduplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Didymosis aplasticosebacea (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Didymosis aplasticosebacea (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Didymosis aplasticosebacea (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe intellectual disability and progressive spastic paraplegia	Occurrence	False	Congenital	Inferred relationship	Some	2
Severe intellectual disability and progressive spastic paraplegia	Occurrence	False	Congenital	Inferred relationship	Some	1
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Temple syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 27	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 27	Occurrence	False	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome due to tenascin-X deficiency	Occurrence	True	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome due to tenascin-X deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Monocytopenia with susceptibility to infections	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal polymalformative syndrome Boissel type	Occurrence	True	Congenital	Inferred relationship	Some	1
3q26q27 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
3q26q27 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2B	Occurrence	True	Congenital	Inferred relationship	Some	2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3

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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)