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
Autism spectrum disorder due to AUTS2 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
15q overgrowth syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
15q overgrowth syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
15q overgrowth syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
15q overgrowth syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Thrombocythemia with distal limb defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Brachyolmia	Occurrence	True	Congenital	Inferred relationship	Some	1
Trichodental syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Left renal agenesis co-occurrent with right renal hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Generalized junctional epidermolysis bullosa	Occurrence	True	Congenital	Inferred relationship	Some	1
Extralobar bronchopulmonary sequestration	Occurrence	True	Congenital	Inferred relationship	Some	1
Trigonocephaly with broad thumb syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Trigonocephaly with broad thumb syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Trigonocephaly with broad thumb syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Trigonocephaly with broad thumb syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cerebellum agenesis with hydrocephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital arteriovenous malformation of small intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Faun tail syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Weismann Netter syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis type 1	Occurrence	True	Congenital	Inferred relationship	Some	2
Inherited arthrogryposis	Occurrence	True	Congenital	Inferred relationship	Some	1
Kyphomelic dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Absence deformity of leg and congenital cataract syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Penile shaft hypospadias (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemifacial microsomia with radial defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft palate with left cleft lip	Occurrence	True	Congenital	Inferred relationship	Some	1
Coffin-Lowry syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Bipartite ossification of centrum of sacral vertebra	Occurrence	True	Congenital	Inferred relationship	Some	1
Retinal arteriovenous shunt	Occurrence	True	Congenital	Inferred relationship	Some	1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Adams-Oliver syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Systemic to coronary collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital spinal meningocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital spinal meningocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Dystrophic epidermolysis bullosa nails only (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa nails only (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Osteopathia striata with cranial sclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dual coronary orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mibellis porokeratos, linjär unilateral typ	Occurrence	False	Congenital	Inferred relationship	Some	1
Cutis laxa, autosomal recessive	Occurrence	True	Congenital	Inferred relationship	Some	1
Blepharoptosis, myopia, ectopia lentis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Kirman syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniomicromelic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Craniomicromelic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniomicromelic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Persistent cloaca	Occurrence	True	Congenital	Inferred relationship	Some	2
Persistent cloaca	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital absence of esophagus with tracheo-esophageal fistula	Occurrence	True	Congenital	Inferred relationship	Some	2
Incomplete ossification of clavicle	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital malformation of ovaries and fallopian tubes	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital malformation of ovaries and fallopian tubes	Occurrence	True	Congenital	Inferred relationship	Some	1
Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Patent urachus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bent bone dysplasia group	Occurrence	True	Congenital	Inferred relationship	Some	1
Polysomia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lingual ectopic tooth	Occurrence	False	Congenital	Inferred relationship	Some	1
Anonychia with bizarre flexural pigmentation	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Subpulmonary infundibulum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oculodentodigital syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Acephalogaster	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Duplication of eyebrow and syndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Duplication of eyebrow and syndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
hydromyelocele med hydrocefalus	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital extrahepatic portal-systemic shunt	Occurrence	True	Congenital	Inferred relationship	Some	1
Midline cervical cleft (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Agnathia, holoprosencephaly, situs inversus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Osseous syndactyly lesser toes	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopic pancreas in duodenum	Occurrence	True	Congenital	Inferred relationship	Some	1
Crowding of anterior mandibular teeth	Occurrence	False	Congenital	Inferred relationship	Some	2
Microphakia	Occurrence	True	Congenital	Inferred relationship	Some	1
Constriction ring of upper limb with lymphedema	Occurrence	True	Congenital	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Small intestine atresia and stenosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of ulna	Occurrence	True	Congenital	Inferred relationship	Some	1
Septoparietal trabeculations	Occurrence	True	Congenital	Inferred relationship	Some	1
Harrod syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Harrod syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Harrod syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectodermal dysplasia with nail defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital koilonychia	Occurrence	True	Congenital	Inferred relationship	Some	1
Iniencephaly	Occurrence	True	Congenital	Inferred relationship	Some	2
Ear auricle and external auditory canal absent	Occurrence	True	Congenital	Inferred relationship	Some	1
Penile mid-shaft hypospadias (disorder)	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)