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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
Situs inversus abdominalis Occurrence True Congenital Inferred relationship Some 1
Congenital mesenteroaxial volvulus of stomach Occurrence True Congenital Inferred relationship Some 1
Erythrokeratodermia variabilis Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive dyskeratosis congenita Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita Occurrence True Congenital Inferred relationship Some 2
X-linked dyskeratosis congenita Occurrence True Congenital Inferred relationship Some 2
Situs inversus thoracis Occurrence True Congenital Inferred relationship Some 1
Hereditary elliptocytosis due to abnormal protein 4.1 Occurrence True Congenital Inferred relationship Some 4
Fibrous dysplasia of jaw Occurrence True Congenital Inferred relationship Some 1
Duchenne muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Angelman syndrome Occurrence True Congenital Inferred relationship Some 1
Neu-Laxova syndrome Occurrence True Congenital Inferred relationship Some 3
Neu-Laxova syndrome Occurrence True Congenital Inferred relationship Some 1
Complete phocomelia of upper limb Occurrence True Congenital Inferred relationship Some 1
Cleft leaflet of mitral valve Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome, familial joint laxity type Occurrence True Congenital Inferred relationship Some 4
Hereditary elliptocytosis due to beta spectrin defect in self-association Occurrence True Congenital Inferred relationship Some 4
Marshall-Smith syndrome Occurrence True Congenital Inferred relationship Some 2
Kommerell's diverticulum Occurrence True Congenital Inferred relationship Some 1
Mucopolysaccharidosis, MPS-IV-A Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 5
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Septo-optic dysplasia sequence Occurrence True Congenital Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome Occurrence True Congenital Inferred relationship Some 6
Steatocystoma multiplex with natal tooth syndrome Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type Occurrence True Congenital Inferred relationship Some 4
Haddad syndrome Occurrence True Congenital Inferred relationship Some 3
Alymphoid cystic thymic dysgenesis Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Occurrence True Congenital Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Occurrence True Congenital Inferred relationship Some 9
Deafness, enamel hypoplasia, nail defect syndrome Occurrence False Congenital Inferred relationship Some 6
Dermo-odonto dysplasia Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome Occurrence True Congenital Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease with type D brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Johnson neuroectodermal syndrome Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease of rectosigmoid region Occurrence True Congenital Inferred relationship Some 3
Extensive aganglionosis Hirschsprung disease Occurrence True Congenital Inferred relationship Some 3
Okamoto syndrome Occurrence False Congenital Inferred relationship Some 4
Book syndrome Occurrence True Congenital Inferred relationship Some 4
Revesz syndrome Occurrence True Congenital Inferred relationship Some 11
Autosomal recessive spastic paraplegia type 55 Occurrence False Congenital Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Occurrence False Congenital Inferred relationship Some 3
Schimke immuno-osseous dysplasia Occurrence True Congenital Inferred relationship Some 3
Retinohepatoendocrinologic syndrome Occurrence False Congenital Inferred relationship Some 1
Retinohepatoendocrinologic syndrome Occurrence False Congenital Inferred relationship Some 2
X-linked hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia, nephritis, deafness syndrome Occurrence False Congenital Inferred relationship Some 5
Waardenburg Shah syndrome Occurrence True Congenital Inferred relationship Some 5
Atrichia with papular lesions Occurrence True Congenital Inferred relationship Some 1
Hereditary cavernous haemangioma of brain Occurrence True Congenital Inferred relationship Some 2
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 4
Blepharophimosis, intellectual disability syndrome, Verloes type Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome due to tenascin-X deficiency Occurrence True Congenital Inferred relationship Some 3
Schwannomatosis Occurrence True Congenital Inferred relationship Some 3
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis Occurrence False Congenital Inferred relationship Some 4
Teebi Shaltout syndrome Occurrence True Congenital Inferred relationship Some 4
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Some 5
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome Occurrence True Congenital Inferred relationship Some 4
Focal palmoplantar and gingival keratoderma Occurrence False Congenital Inferred relationship Some 3
RAB18, member RAS oncogene family deficiency Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome spondylocheirodysplastic type Occurrence True Congenital Inferred relationship Some 3
Roifman syndrome Occurrence True Congenital Inferred relationship Some 3
Complete aphalangia of upper limb Occurrence True Congenital Inferred relationship Some 1
Ectopia cordis Occurrence True Congenital Inferred relationship Some 1
Lumbosacral prespondylolisthesis Occurrence False Congenital Inferred relationship Some 1
Lowe syndrome Occurrence True Congenital Inferred relationship Some 2
Lowe syndrome Occurrence True Congenital Inferred relationship Some 3
Wildervanck syndrome Occurrence True Congenital Inferred relationship Some 2
Wildervanck syndrome Occurrence True Congenital Inferred relationship Some 3
Wildervanck syndrome Occurrence True Congenital Inferred relationship Some 4
Wildervanck syndrome Occurrence True Congenital Inferred relationship Some 5
Ehlers-Danlos syndrome, dominant type 4 Occurrence False Congenital Inferred relationship Some 1
Prader-Willi syndrome Occurrence True Congenital Inferred relationship Some 3
Monostotic fibrous dysplasia Occurrence True Congenital Inferred relationship Some 1
Aicardi's syndrome Occurrence True Congenital Inferred relationship Some 1
Floating gallbladder Occurrence True Congenital Inferred relationship Some 1
Cor biloculare Occurrence True Congenital Inferred relationship Some 1
Cor biloculare Occurrence True Congenital Inferred relationship Some 2
Treacher Collins syndrome Occurrence True Congenital Inferred relationship Some 2
Familial x-linked hypophosphataemic vitamin D refractory rickets Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome, type 1 Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome, dysfibronectinaemic Occurrence True Congenital Inferred relationship Some 1
Osteitis fibrosa cystica generalisata Occurrence False Congenital Inferred relationship Some 4
Congenital cleft of thymus Occurrence True Congenital Inferred relationship Some 1
Neurofibromatosis type 2 Occurrence False Congenital Inferred relationship Some 1
Neurofibromatosis type 1 Occurrence True Congenital Inferred relationship Some 1
Combined valvular-subvalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of arch of lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
Monophthalmos Occurrence True Congenital Inferred relationship Some 1
Extracapsular adrenal tissue Occurrence True Congenital Inferred relationship Some 1
Hemicentric lumbar centrum Occurrence False Congenital Inferred relationship Some 1
Hemicentric thoracic centrum Occurrence False Congenital Inferred relationship Some 1
Hologastroschisis Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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