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
Congenital bilateral internal tibial torsion	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital bilateral internal tibial torsion	Occurrence	False	Congenital	Inferred relationship	Some	5
Harrod syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Harrod syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Harrod syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
Harrod syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
FRAXF syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked lissencephaly with abnormal genitalia syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked lissencephaly with abnormal genitalia syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Distal monosomy 1q syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Chromosome 3q29 duplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lissencephaly syndrome Norman Roberts type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Recombinant chromosome 8 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital mandibular hyperplasia	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital horizontal mandibular hyperplasia	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital vertical mandibular hyperplasia	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital transverse mandibular hyperplasia	Occurrence	False	Congenital	Inferred relationship	Some	3
Lissencephaly syndrome Norman Roberts type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Solitary aortic trunk with pulmonary atresia	Occurrence	True	Congenital	Inferred relationship	Some	2
Solitary aortic trunk with pulmonary atresia	Occurrence	False	Congenital	Inferred relationship	Some	4
Pulmonary atresia with confluent pulmonary arteries	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hydronephrosis	Occurrence	True	Congenital	Inferred relationship	Some	1
trunkalklaffdysplasi	Occurrence	False	Congenital	Inferred relationship	Some	2
Distal arthrogryposis type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurogenic arthrogryposis multiplex congenita (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive primary microcephaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital tubular duplication of esophagus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
3q29 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
3q29 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Autosomal dominant centronuclear myopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deficiency of alpha-fetoprotein (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Epidermolysis bullosa simplex with circinate migratory erythema (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	False	Congenital	Inferred relationship	Some	6
FRAXE intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
L1 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
L1 syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Joubert syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Joubert syndrome with ocular defect (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Joubert syndrome with renal defect (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Irapa type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Schisis association syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Enlarged parietal foramina (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	3
Piebaldism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fatal infantile cytochrome C oxidase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital dysplasia of cardiac valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated right ventricular hypoplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cardiac diverticulum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Combined pituitary hormone deficiency genetic form (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Familial thyroid dyshormonogenesis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
8p inverted duplication deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Peripheral resistance to thyroid hormone (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Deficiency of monoamine oxidase A (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Partial defect of atrioventricular canal (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Partial defect of atrioventricular canal (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Wolf Hirschhorn syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Proximal 16p11.2 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fetal iodine syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex with pyloric atresia	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital short bowel syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Absence deformity of leg and congenital cataract syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Absence deformity of leg and congenital cataract syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Tetraamelia with multiple malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Tetraamelia with multiple malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Chronic diarrhea due to glucoamylase deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital suprabulbar paresis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive sideroblastic anemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal dominant popliteal pterygium syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Weill-Marchesani syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Defects of tubular bones and spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital abnormal retraction of eyelid (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital abnormal retraction of eyelid (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Unilateral polymicrogyria (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Sonoda syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Sonoda syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Brachymegalodactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectromelia of upper limb	Occurrence	True	Congenital	Inferred relationship	Some	1
Symbrachydactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectromelia	Occurrence	True	Congenital	Inferred relationship	Some	1
Longitudinal deficiency of radius AND ulna	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly syndrome type E	Occurrence	True	Congenital	Inferred relationship	Some	1
hemimeli av arm	Occurrence	False	Congenital	Inferred relationship	Some	1
Acrodysostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Acrodysostosis	Occurrence	True	Congenital	Inferred relationship	Some	2

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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)