FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.9.0  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

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
Pili torti onychodysplasia syndrome Occurrence False Congenital Inferred relationship Some 7
Ramos Arroyo syndrome Occurrence False Congenital Inferred relationship Some 2
Toriello Lacassie Droste syndrome Occurrence True Congenital Inferred relationship Some 2
Toriello Lacassie Droste syndrome Occurrence False Congenital Inferred relationship Some 3
Thiamine-responsive encephalopathy Occurrence True Congenital Inferred relationship Some 1
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence False Congenital Inferred relationship Some 3
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence False Congenital Inferred relationship Some 4
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence False Congenital Inferred relationship Some 5
Tangier disease Occurrence True Congenital Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence True Congenital Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence False Congenital Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence False Congenital Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence False Congenital Inferred relationship Some 7
Stern Lubinsky Durrie syndrome Occurrence True Congenital Inferred relationship Some 3
Stern Lubinsky Durrie syndrome Occurrence True Congenital Inferred relationship Some 4
Stern Lubinsky Durrie syndrome Occurrence True Congenital Inferred relationship Some 5
Saethre-Chotzen syndrome Occurrence True Congenital Inferred relationship Some 1
Tryptophanuria with dwarfism Occurrence False Congenital Inferred relationship Some
Solitary multilocular renal cyst Occurrence True Congenital Inferred relationship Some 1
Medullary sponge kidney Occurrence True Congenital Inferred relationship Some 1
Medullary sponge kidney with nephrocalcinosis Occurrence True Congenital Inferred relationship Some 1
Medullary sponge kidney without nephrocalcinosis Occurrence True Congenital Inferred relationship Some 1
Fibrocystic kidney disease Occurrence True Congenital Inferred relationship Some 1
Simpson-Golabi-Behmel syndrome Occurrence True Congenital Inferred relationship Some 1
Bilateral medullary sponge kidney Occurrence True Congenital Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type Occurrence False Congenital Inferred relationship Some 3
Hypotrichosis and intellectual disability syndrome Lopes type Occurrence False Congenital Inferred relationship Some 4
Midline cleft of lower lip Occurrence False Congenital Inferred relationship Some 2
Midline cleft of lower lip Occurrence False Congenital Inferred relationship Some 3
Microcephalic osteodysplastic dysplasia Saul Wilson type Occurrence True Congenital Inferred relationship Some 3
Microcephalic osteodysplastic dysplasia Saul Wilson type Occurrence False Congenital Inferred relationship Some 4
Microcephalic osteodysplastic dysplasia Saul Wilson type Occurrence False Congenital Inferred relationship Some 5
Mycophenolate mofetil embryopathy Occurrence True Congenital Inferred relationship Some 1
Multinodular goitre, cystic kidney, polydactyly syndrome Occurrence False Congenital Inferred relationship Some 5
Multinodular goitre, cystic kidney, polydactyly syndrome Occurrence False Congenital Inferred relationship Some 6
Nasopalpebral lipoma coloboma syndrome Occurrence True Congenital Inferred relationship Some 2
Nasopalpebral lipoma coloboma syndrome Occurrence False Congenital Inferred relationship Some 3
Native American myopathy Occurrence True Congenital Inferred relationship Some 2
Native American myopathy Occurrence False Congenital Inferred relationship Some 3
Spastic paraplegia type 2 Occurrence False Congenital Inferred relationship Some 4
Simpson Golabi Behmel syndrome type 2 Occurrence False Congenital Inferred relationship Some 1
Postaxial polydactyly type A Occurrence True Congenital Inferred relationship Some 1
Postaxial polydactyly type B Occurrence True Congenital Inferred relationship Some 1
Nephrogenic syndrome of inappropriate antidiuresis Occurrence True Congenital Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence False Congenital Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence False Congenital Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence False Congenital Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence False Congenital Inferred relationship Some 7
Noonan syndrome-like disorder with loose anagen hair Occurrence False Congenital Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair Occurrence False Congenital Inferred relationship Some 4
Polydactyly of index finger Occurrence True Congenital Inferred relationship Some 1
Polyvalvular heart disease syndrome Occurrence True Congenital Inferred relationship Some 2
Polyvalvular heart disease syndrome Occurrence False Congenital Inferred relationship Some 3
Pigmented paravenous retinochoroidal atrophy Occurrence True Congenital Inferred relationship Some 2
Pigmented paravenous retinochoroidal atrophy Occurrence True Congenital Inferred relationship Some 3
PHAVER syndrome Occurrence True Congenital Inferred relationship Some 1
Pierre Robin sequence faciodigital anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Pierre Robin sequence faciodigital anomaly syndrome Occurrence False Congenital Inferred relationship Some 3
Revesz syndrome Occurrence True Congenital Inferred relationship Some 5
Revesz syndrome Occurrence True Congenital Inferred relationship Some 7
Revesz syndrome Occurrence False Congenital Inferred relationship Some 8
Talo-patello-scaphoid osteolysis syndrome Occurrence True Congenital Inferred relationship Some 2
Talo-patello-scaphoid osteolysis syndrome Occurrence False Congenital Inferred relationship Some 3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence True Congenital Inferred relationship Some 4
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence False Congenital Inferred relationship Some 5
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence False Congenital Inferred relationship Some 6
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence False Congenital Inferred relationship Some 7
Spastic paraplegia type 2 Occurrence False Congenital Inferred relationship Some 7
SLC35A1 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Citrullinaemia, late-onset type Occurrence False Congenital Inferred relationship Some
Multinodular goitre, cystic kidney, polydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital stenosis of larynx Occurrence False Congenital Inferred relationship Some
Accessory left tarsal navicular bone Occurrence True Congenital Inferred relationship Some 1
Accessory right tarsal navicular bone Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of ascending aorta Occurrence False Congenital Inferred relationship Some
Revesz syndrome Occurrence True Congenital Inferred relationship Some 6
Congenital rectocloacal fistula Occurrence False Congenital Inferred relationship Some
Clastothrix Occurrence True Congenital Inferred relationship Some 1
Clastothrix Occurrence True Congenital Inferred relationship Some 2
Clastothrix Occurrence False Congenital Inferred relationship Some 3
Pierson syndrome Occurrence True Congenital Inferred relationship Some 2
Pierson syndrome Occurrence False Congenital Inferred relationship Some 3
Recessive aplasia cutis congenita of limbs Occurrence True Congenital Inferred relationship Some 2
Renier Gabreels Jasper syndrome Occurrence False Congenital Inferred relationship Some 2
Renier Gabreels Jasper syndrome Occurrence False Congenital Inferred relationship Some 3
Retinal degeneration, nanophthalmos, glaucoma syndrome Occurrence True Congenital Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome Occurrence False Congenital Inferred relationship Some 3
Trichothiodystrophy Occurrence False Congenital Inferred relationship Some 3
Trichothiodystrophy Occurrence False Congenital Inferred relationship Some 4
Trichothiodystrophy Occurrence False Congenital Inferred relationship Some 5
Transient neonatal multiple acyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 3
Thymic, renal, anal, lung dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Thymic, renal, anal, lung dysplasia syndrome Occurrence False Congenital Inferred relationship Some 3
Thoracolaryngopelvic dysplasia Occurrence False Congenital Inferred relationship Some 3
Thoracolaryngopelvic dysplasia Occurrence False Congenital Inferred relationship Some 4
Steroid dehydrogenase deficiency and dental anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome Occurrence False Congenital Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence False Congenital Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence False Congenital Inferred relationship Some 7
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence False Congenital Inferred relationship Some 8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence True Congenital Inferred relationship Some 5

Start Previous Page 259 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start