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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
Short tarsus with absence of lower eyelashes syndrome Occurrence True Congenital Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome Occurrence False Congenital Inferred relationship Some 3
Dacryocystitis and osteopoikilosis syndrome Occurrence False Congenital Inferred relationship Some 3
Dacryocystitis and osteopoikilosis syndrome Occurrence True Congenital Inferred relationship Some 4
Dahlberg Borer Newcomer syndrome Occurrence True Congenital Inferred relationship Some 5
Dahlberg Borer Newcomer syndrome Occurrence False Congenital Inferred relationship Some 6
Deaf blind hypopigmentation syndrome Yemenite type Occurrence False Congenital Inferred relationship Some 3
Deaf blind hypopigmentation syndrome Yemenite type Occurrence False Congenital Inferred relationship Some 4
Deafness, enamel hypoplasia, nail defect syndrome Occurrence False Congenital Inferred relationship Some 8
Deafness, enamel hypoplasia, nail defect syndrome Occurrence False Congenital Inferred relationship Some 10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence False Congenital Inferred relationship Some 7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence False Congenital Inferred relationship Some 8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence False Congenital Inferred relationship Some 9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence False Congenital Inferred relationship Some 10
Deafness and intellectual disability Martin Probst type syndrome Occurrence False Congenital Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 4
Dermo-odonto dysplasia Occurrence True Congenital Inferred relationship Some 2
Dermo-odonto dysplasia Occurrence True Congenital Inferred relationship Some 3
Developmental malformation, deafness, dystonia syndrome Occurrence False Congenital Inferred relationship Some 5
Diaphanospondylodysostosis Occurrence False Congenital Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence False Congenital Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence False Congenital Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome Occurrence False Congenital Inferred relationship Some 7
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Occurrence False Congenital Inferred relationship Some 3
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Occurrence False Congenital Inferred relationship Some 4
Hydrolethalus syndrome Occurrence False Congenital Inferred relationship Some 2
Congenital dilatation of aortic root Occurrence True Congenital Inferred relationship Some 1
Congenital trigger finger and trigger thumb Occurrence True Congenital Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome Occurrence False Congenital Inferred relationship Some 7
Congenital anomalies of tongue, mouth and pharynx Occurrence True Congenital Inferred relationship Some 1
Congenital absence of pelvis and lower limb Occurrence False Congenital Inferred relationship Some 3
Fibular aplasia and ectrodactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Fibular aplasia and ectrodactyly syndrome Occurrence False Congenital Inferred relationship Some 4
Fibular aplasia and ectrodactyly syndrome Occurrence False Congenital Inferred relationship Some 5
HEC syndrome Occurrence False Congenital Inferred relationship Some 4
HEC syndrome Occurrence False Congenital Inferred relationship Some 5
HEC syndrome Occurrence False Congenital Inferred relationship Some 6
Dermatoosteolysis Kirghizian type Occurrence True Congenital Inferred relationship Some 3
Dermatoosteolysis Kirghizian type Occurrence True Congenital Inferred relationship Some 4
Dermatoosteolysis Kirghizian type Occurrence True Congenital Inferred relationship Some 5
Alpha-2 antitrypsin deficiency Occurrence True Congenital Inferred relationship Some 1
Siegler Brewer Carey syndrome Occurrence False Congenital Inferred relationship Some 2
Congenital ectropion Occurrence False Congenital Inferred relationship Some 1
Cleft palate with cleft lip Occurrence True Congenital Inferred relationship Some 1
Cheilognathoschisis Occurrence False Congenital Inferred relationship Some 3
Cheilognathoprosoposchisis Occurrence True Congenital Inferred relationship Some 2
Oromandibular-limb hypogenesis spectrum Occurrence False Congenital Inferred relationship Some 6
Bilateral incomplete cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some 3
Central complete cleft palate with cleft lip Occurrence True Congenital Inferred relationship Some 1
Central incomplete cleft palate with cleft lip Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with cleft lip, bilateral Occurrence True Congenital Inferred relationship Some 2
Cheilopalatoschisis Occurrence False Congenital Inferred relationship Some 1
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Complete cleft hard and soft palate Occurrence True Congenital Inferred relationship Some 1
Cleft upper lip, upper jaw AND palate Occurrence True Congenital Inferred relationship Some 1
Cheilognathouranoschisis Occurrence True Congenital Inferred relationship Some 1
Cheilognathopalatoschisis Occurrence False Congenital Inferred relationship Some 1
COG7 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
COG8 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Coloboma of macula with brachydactyly type B syndrome Occurrence True Congenital Inferred relationship Some 3
Coloboma of macula with brachydactyly type B syndrome Occurrence False Congenital Inferred relationship Some 4
Coloboma of macula with brachydactyly type B syndrome Occurrence False Congenital Inferred relationship Some 5
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Occurrence False Congenital Inferred relationship Some 4
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Occurrence False Congenital Inferred relationship Some 5
Global developmental delay, osteopenia, ectodermal defect syndrome Occurrence True Congenital Inferred relationship Some 2
Global developmental delay, osteopenia, ectodermal defect syndrome Occurrence False Congenital Inferred relationship Some 3
Glossopalatine ankylosis Occurrence True Congenital Inferred relationship Some 4
Glossopalatine ankylosis Occurrence False Congenital Inferred relationship Some 5
Glossopalatine ankylosis Occurrence False Congenital Inferred relationship Some 6
Glossopalatine ankylosis Occurrence False Congenital Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome Occurrence True Congenital Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome Occurrence False Congenital Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome Occurrence False Congenital Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome Occurrence False Congenital Inferred relationship Some 11
Hereditary sensory and autonomic neuropathy with spastic paraplegia Occurrence False Congenital Inferred relationship Some
Beemer Ertbruggen syndrome Occurrence True Congenital Inferred relationship Some 3
Beemer Ertbruggen syndrome Occurrence False Congenital Inferred relationship Some 4
Beemer Ertbruggen syndrome Occurrence False Congenital Inferred relationship Some 5
Blepharoptosis, myopia, ectopia lentis syndrome Occurrence True Congenital Inferred relationship Some 2
Blepharoptosis, myopia, ectopia lentis syndrome Occurrence False Congenital Inferred relationship Some 3
BNAR syndrome Occurrence True Congenital Inferred relationship Some 1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Occurrence False Congenital Inferred relationship Some 5
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Occurrence False Congenital Inferred relationship Some 6
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Occurrence False Congenital Inferred relationship Some 7
Branchiogenic deafness syndrome Occurrence False Congenital Inferred relationship Some 3
Hernandez Aguirre Negrete syndrome Occurrence True Congenital Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type Occurrence False Congenital Inferred relationship Some 4
Hidrotic ectodermal dysplasia Halal type Occurrence False Congenital Inferred relationship Some 5
Hidrotic ectodermal dysplasia Halal type Occurrence False Congenital Inferred relationship Some 6
Hidrotic ectodermal dysplasia Halal type Occurrence False Congenital Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome Occurrence False Congenital Inferred relationship Some 8
Hirschsprung disease with deafness and polydactyly syndrome Occurrence False Congenital Inferred relationship Some 9
Hirschsprung disease with type D brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 7
Hirschsprung disease with type D brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 8
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence False Congenital Inferred relationship Some 8
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence False Congenital Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism Occurrence False Congenital Inferred relationship Some 10
Holmes Gang syndrome Occurrence False Congenital Inferred relationship Some 1
Hunter McAlpine craniosynostosis syndrome Occurrence False Congenital Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome Occurrence False Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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