FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.9.1  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive distal osteolysis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 11 (disorder) survenue (attribut) False congénital Inferred relationship Some
Rhizomelic dysplasia of Patterson Lowry type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Syndactyly type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndactylie type 2 survenue (attribut) True congénital Inferred relationship Some 2
syndactylie type 2 survenue (attribut) False congénital Inferred relationship Some 3
Syndactyly type 3 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pituitary stalk interruption syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Congenital absence of half of thyroid (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Maternal uniparental disomy of chromosome 20 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 20 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lissencephaly type 1 due to doublecortin gene mutation (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Acrocallosal syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Acrocallosal syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Acrocallosal syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 7
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Autosomal recessive distal osteolysis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Phocomelia Schinzel type (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Phocomelia Schinzel type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Chondrodysplasia punctata Toriello type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Oculocutaneous albinism type 4 (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Oculocutaneous albinism type 4 (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Atypical Werner syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
malformation glomuveineuse survenue (attribut) True congénital Inferred relationship Some 1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Gnathodiaphyseal dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Mesomelic dysplasia Savarirayan type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Spondyloocular syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Retinal dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Multifocal retinal dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Diffuse retinal dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Distal arthrogryposis type 2B (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal arthrogryposis type 5 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked retinal dysplasia (disorder) survenue (attribut) False congénital Inferred relationship Some 2
X-linked retinal dysplasia (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Renal dysplasia co-occurrent with megalocystis and sirenomelia (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Ulna metaphyseal dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) survenue (attribut) False congénital Inferred relationship Some
Neurofibromatosis Noonan syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Deletion of long arm of chromosome 17 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) survenue (attribut) False congénital Inferred relationship Some 4
syndrome améloonychohypohidrotique survenue (attribut) True congénital Inferred relationship Some 2
syndrome améloonychohypohidrotique survenue (attribut) False congénital Inferred relationship Some 3
lissencéphalie type 1 inexpliquée survenue (attribut) False congénital Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Trigonocephaly C syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Lethal congenital contracture syndrome type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lethal congenital contracture syndrome type 2 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lethal congenital contracture syndrome type 3 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
dysplasie cranio-fronto-nasale survenue (attribut) True congénital Inferred relationship Some 1
Craniotelencephalic dysplasia (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Acromelic frontonasal dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Embryofetopathy caused by indomethacin (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Multiple non-ossifying fibromatosis (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Holoprosencephaly craniosynostosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 2 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 2 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 10
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres survenue (attribut) False congénital Inferred relationship Some 2
syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres survenue (attribut) False congénital Inferred relationship Some 3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Desmin related myopathy with Mallory body-like inclusions (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Ischio-vertebral syndrome survenue (attribut) True congénital Inferred relationship Some 2
Ischio-vertebral syndrome survenue (attribut) False congénital Inferred relationship Some 3
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Brachyolmia type 1 Toledo type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Multiple epiphyseal dysplasia type 4 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
dysplasie épiphysaire multiple type 1 survenue (attribut) False congénital Inferred relationship Some 3
Multiple epiphyseal dysplasia type 5 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Deafness craniofacial syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Congenital scoliosis due to bony malformation survenue (attribut) True congénital Inferred relationship Some 2
Congenital infection caused by Herpes virus (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
microcéphalie-microcornée type Seemanova survenue (attribut) False congénital Inferred relationship Some 3
Brachydactylous dwarfism Mseleni type survenue (attribut) False congénital Inferred relationship Some 3
Micromelic spondyloepimetaphyseal dysplasia (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Distal arthrogryposis type 4 (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Distal arthrogryposis type 4 (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Crane Heise syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Crane Heise syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Crane Heise syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5

Start Previous Page 239 of 326 Next End

This concept is not in any reference sets

Back to Start