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
Proximal femoral focal deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Caudal appendage deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Caudal appendage deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Caudal appendage deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Common arterial trunk with aortic dominance (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly and arterial hypertension syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Triplication of appendix	Occurrence	True	Congenital	Inferred relationship	Some	1
Dyschondrosteosis and nephritis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dyschondrosteosis and nephritis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
manus extensa	Occurrence	False	Congenital	Inferred relationship	Some	2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Patterson Stevenson Fontaine syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Aglossia-adactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double mitral valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Split hand, split foot malformation with sensorineural hearing loss syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Split hand, split foot malformation with sensorineural hearing loss syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Split hand, split foot malformation with sensorineural hearing loss syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Incomplete ossification of supraoccipital bone	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple malformation syndrome with facial-limb defects as major feature	Occurrence	True	Congenital	Inferred relationship	Some	1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Incomplete ossification of centrum of lumbar vertebra	Occurrence	True	Congenital	Inferred relationship	Some	1
Pre-eruptive color change of tooth	Occurrence	False	Congenital	Inferred relationship	Some	1
Mesomelic dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Spinocerebellar ataxia type 34 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
pseudohypoparatyreoidism och pseudopseudohypoparatyreoidism, typ 1	Occurrence	False	Congenital	Inferred relationship	Some	1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Junctional epidermolysis bullosa gravis of Herlitz (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
L1 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Roger's disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Bone dysplasia lethal Holmgren type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thrombocytopathy, asplenia and miosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Auricular abnormality, cleft lip, ocular abnormality syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Auricular abnormality, cleft lip, ocular abnormality syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Fucosidosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Brittle cornea syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
medfödd postural lordos	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of cardiac ventricle	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect - ventricular component under inferior bridging leaflet	Occurrence	True	Congenital	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Persisting fifth aortic arch with atresia of fourth arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital fistula between uterus and urinary tract	Occurrence	True	Congenital	Inferred relationship	Some	1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Occurrence	True	Congenital	Inferred relationship	Some	1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital chorioretinal degeneration	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of tarsal bone	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital nuclear ophthalmoplegia	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniodiaphyseal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Achondrogenesis, type II	Occurrence	True	Congenital	Inferred relationship	Some	1
Grebe syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Vitelline duct polyp (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sandman-Andra syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypoplasia of uterus and cervix	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Supernumerary fused sternebra	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete bilateral cleft palate	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete bilateral cleft palate	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal dominant brachyolmia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant brachyolmia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Uterus subseptus	Occurrence	True	Congenital	Inferred relationship	Some	1
Inverse junctional epidermolysis bullosa	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Tracheal origin of right upper lobe bronchus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Temtamy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Temtamy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Uterus cordiformis	Occurrence	True	Congenital	Inferred relationship	Some	1
Kartagener syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral renal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Polyvalvular heart disease syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete situs inversus with dextrocardia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thanatophoric dysplasia, type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pericardial defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplasias with significant membranous bone involvement	Occurrence	True	Congenital	Inferred relationship	Some	1
Skeletal dysplasia brachydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
gälspringa, cysta eller fistel, preaurikulär sinus	Occurrence	False	Congenital	Inferred relationship	Some	1
Holoprosencephaly and postaxial polydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short tarsus with absence of lower eyelashes syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pulmonary artery conduit	Occurrence	True	Congenital	Inferred relationship	Some	1
Right renal agenesis co-occurrent with left renal hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Smith McCort dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cleft soft palate with right cleft lip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Overgrowth, macrocephaly, facial dysmorphism syndrome (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)