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
Distal limb deficiency with micrognathia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Distal trisomy 6p syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double uterus, hemivagina, renal agenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Double uterus, hemivagina, renal agenesis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Dyschondrosteosis and nephritis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Dyschondrosteosis and nephritis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Dysspondyloenchondromatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Dystrophic epidermolysis bullosa nails only (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Dystrophic epidermolysis bullosa nails only (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Meacham syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Meacham syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Meacham syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Thickened earlobe with conductive deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Thickened earlobe with conductive deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Toriello Carey syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial caudal dysgenesis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial caudal dysgenesis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Optic disc dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Laryngo-onycho-cutaneous syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Laryngo-onycho-cutaneous syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Laryngo-onycho-cutaneous syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Palmoplantar keratoderma with deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Palmoplantar keratoderma with deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Palmoplantar keratoderma Nagashima type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Palmoplantar keratoderma Nagashima type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Parastremmatic dwarfism (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Symphalangism	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital diverticulum of small intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of jejunum type IIIb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of jejunum type IV (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Glycogen storage disease due to acid maltase deficiency, infantile onset	Occurrence	True	Congenital	Inferred relationship	Some	1
Glycogen storage disease due to acid maltase deficiency, late-onset	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial haemolytic uraemic syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital perineal groove (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cyst of aryepiglottic fold (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital central hypothyroidism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypothyroidism due to iodine deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypogonadotropic hypogonadism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hypogonadotropic hypogonadism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital malformation of autonomic nervous system (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital aganglionic megacolon	Occurrence	True	Congenital	Inferred relationship	Some	1
Long segment Hirschsprung's disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short segment Hirschsprung's disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Total intestinal aganglionosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Aganglionosis of Auerbach's plexus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mowat-Wilson syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Mowat-Wilson syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Waardenburg Shah syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Waardenburg Shah syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Goldberg Shprintzen megacolon syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Haddad syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	10
Hirschsprung disease with type D brachydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	11
Hirschsprung disease of rectosigmoid region (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Hirschsprung disease of rectosigmoid region (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Extensive aganglionosis Hirschsprung disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Extensive aganglionosis Hirschsprung disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Immature ganglionosis of large intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Immature ganglionosis of large intestine (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital hypoganglionosis of large intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital hypoganglionosis of large intestine (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Aplasia of optic nerve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital atrophy of optic nerve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Aganglionosis of large intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital developmental anomaly of cystic duct (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Megalopapilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Basal epidermolysis bullosa simplex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Basal epidermolysis bullosa simplex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Lumbosacral agenesis	Occurrence	True	Congenital	Inferred relationship	Some	2
Coloboma of choroid	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital chorioretinal coloboma of right eye (disorder)	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)