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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
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)


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
Isolated hypoplasia of optic nerve (disorder) Occurrence True Congenital Inferred relationship Some 1
Short rib polydactyly syndrome type I (disorder) Occurrence False Congenital Inferred relationship Some 5
Short rib polydactyly syndrome type I (disorder) Occurrence False Congenital Inferred relationship Some 6
Short rib polydactyly syndrome type I (disorder) Occurrence False Congenital Inferred relationship Some 7
Short rib polydactyly syndrome type I (disorder) Occurrence False Congenital Inferred relationship Some 8
X-linked hereditary spastic paraplegia (disorder) Occurrence False Congenital Inferred relationship Some 6
Right metatarsus adductus (disorder) Occurrence True Congenital Inferred relationship Some 1
Left metatarsus adductus (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked hereditary spastic paraplegia (disorder) Occurrence False Congenital Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 32 (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 26 (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 64 (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 61 (disorder) Occurrence False Congenital Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence False Congenital Inferred relationship Some 4
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence False Congenital Inferred relationship Some 5
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence False Congenital Inferred relationship Some 6
Caudal appendage deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Caudal appendage deafness syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Spastic paraplegia with Paget disease of bone syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Scalp defect postaxial polydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft lip sequence (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft uvula (disorder) Occurrence False Congenital Inferred relationship Some 4
Byzanthine arch palate Occurrence True Congenital Inferred relationship Some 1
Byzanthine arch palate Occurrence False Congenital Inferred relationship Some 2
Incomplete bilateral cleft palate Occurrence False Congenital Inferred relationship Some 6
Incomplete bilateral cleft lip Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate Occurrence True Congenital Inferred relationship Some 1
Cleft palate with cleft lip Occurrence True Congenital Inferred relationship Some 2
Van der Woude syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft lip Occurrence True Congenital Inferred relationship Some 1
Complete bilateral cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Opitz-Frias syndrome Occurrence True Congenital Inferred relationship Some 1
Tetralogy of Fallot Occurrence True Congenital Inferred relationship Some 2
Cleft palate Occurrence True Congenital Inferred relationship Some 1
Congenital ocular coloboma (disorder) Occurrence True Congenital Inferred relationship Some 1
Thoracoceloschisis Occurrence True Congenital Inferred relationship Some 1
Thoracoceloschisis Occurrence True Congenital Inferred relationship Some 2
Coloboma of lens Occurrence False Congenital Inferred relationship Some 2
Pentalogy of Fallot (disorder) Occurrence True Congenital Inferred relationship Some 3
Common atrioventricular-type ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Central cleft lip Occurrence True Congenital Inferred relationship Some 1
partiellt bilateralt kluven gom med kluven läpp Occurrence False Congenital Inferred relationship Some 8
Central complete cleft palate with cleft lip Occurrence True Congenital Inferred relationship Some 2
Central incomplete cleft palate with cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft hard palate with cleft lip, bilateral Occurrence False Congenital Inferred relationship Some 6
Tetralogy of Fallot with pulmonary stenosis Occurrence True Congenital Inferred relationship Some 2
Tetralogy of Fallot with pulmonary atresia Occurrence True Congenital Inferred relationship Some 1
Dextraposition of aorta in Fallot's tetralogy Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect in Fallot's tetralogy Occurrence True Congenital Inferred relationship Some 1
Pulmonary atresia with ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
keilopalatoschis Occurrence False Congenital Inferred relationship Some 2
bilateralt kluven läpp, totalt och partiellt Occurrence False Congenital Inferred relationship Some 1
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral cleft lip Occurrence True Congenital Inferred relationship Some 1
Cleft upper lip, upper jaw AND palate Occurrence True Congenital Inferred relationship Some 2
Cheilognathouranoschisis Occurrence True Congenital Inferred relationship Some 2
keilognatopalatoschis Occurrence False Congenital Inferred relationship Some 2
Cleft lip and cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 2
Tetralogy of Fallot with absent pulmonary valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Secondary lens coloboma (disorder) Occurrence False Congenital Inferred relationship Some 2
Primary lens coloboma (disorder) Occurrence False Congenital Inferred relationship Some 2
Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Pulmonary atresia with ventricular septal defect of Fallot type (disorder) Occurrence True Congenital Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Delayed membranous cranial ossification (disorder) Occurrence True Congenital Inferred relationship Some 1
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) Occurrence True Congenital Inferred relationship Some 1
Lowry Yong syndrome Occurrence True Congenital Inferred relationship Some 2
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Coloboma of macula with brachydactyly type B syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Biemond syndrome type 2 (disorder) Occurrence False Congenital Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Familial median cleft of upper and lower lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Familial median cleft of upper and lower lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Abruzzo Erickson syndrome Occurrence True Congenital Inferred relationship Some 1
Abruzzo Erickson syndrome Occurrence True Congenital Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Microcephalus cleft palate syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Temtamy syndrome Occurrence True Congenital Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2

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