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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
Lack of ossification of arch of sacral vertebra Occurrence False Congenital Inferred relationship Some
Lack of ossification of arch of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Lack of ossification of auditory ossicles Occurrence False Congenital Inferred relationship Some
Lack of ossification of basioccipital bone Occurrence False Congenital Inferred relationship Some
Lack of ossification of basisphenoid bone Occurrence False Congenital Inferred relationship Some
Lack of ossification of calcaneus Occurrence False Congenital Inferred relationship Some
Lack of ossification of carpal bone Occurrence False Congenital Inferred relationship Some
Lack of ossification of centrum of caudal vertebra Occurrence False Congenital Inferred relationship Some
Lack of ossification of centrum of cervical vertebra Occurrence False Congenital Inferred relationship Some
Lack of ossification of centrum of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Lack of ossification of centrum of sacral vertebra Occurrence False Congenital Inferred relationship Some
Lack of ossification of centrum of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Lack of ossification of clavicle Occurrence False Congenital Inferred relationship Some
Lack of ossification of exoccipital bone Occurrence False Congenital Inferred relationship Some
Lack of ossification of femur Occurrence False Congenital Inferred relationship Some
Lowry Yong syndrome Occurrence False Congenital Inferred relationship Some 3
17q12 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
19p13.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Pachygyria, intellectual disability, epilepsy syndrome Occurrence True Congenital Inferred relationship Some 2
Action myoclonus renal failure syndrome Occurrence True Congenital Inferred relationship Some 1
Ankyrin-B syndrome Occurrence True Congenital Inferred relationship Some 1
Primary malignant neoplasm of ectopic female breast tissue Occurrence False Congenital Inferred relationship Some
Primary malignant neoplasm of ectopic male breast tissue Occurrence False Congenital Inferred relationship Some
Distal trisomy 11q Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 13q Occurrence True Congenital Inferred relationship Some 1
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 16q Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 10 Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 12 Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 14 Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 20q syndrome Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 22q syndrome Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 2p Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 3p Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 9q Occurrence True Congenital Inferred relationship Some 1
Encircling double aortic arch Occurrence True Congenital Inferred relationship Some 1
Familial focal epilepsy with variable foci Occurrence True Congenital Inferred relationship Some 1
Familial isolated trichomegaly Occurrence True Congenital Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Cylindrical spirals myopathy Occurrence True Congenital Inferred relationship Some 1
Gouty neuritis Occurrence False Congenital Inferred relationship Some
Cheilognathoschisis Occurrence True Congenital Inferred relationship Some 1
Cheilognathoprosoposchisis Occurrence True Congenital Inferred relationship Some 1
Cleft mandible Occurrence True Congenital Inferred relationship Some 1
Cleft of primary palate Occurrence True Congenital Inferred relationship Some 1
Bilateral cleft of primary palate Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with cleft lip, bilateral Occurrence True Congenital Inferred relationship Some 1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Occurrence True Congenital Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence True Congenital Inferred relationship Some 1
Kapur Toriello syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 4
Craniofacial cleft Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 15 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 16 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 17 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 2 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 20 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 22 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 3 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 4 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 5 syndrome Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 7 syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 15 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 Occurrence False Congenital Inferred relationship Some 2
Tetrasomy 21 Occurrence True Congenital Inferred relationship Some 1
Distal 17p13.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Occurrence True Congenital Inferred relationship Some 3
7p22.1 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Xq12-q13.3 duplication syndrome Occurrence True Congenital Inferred relationship Some 1
9p13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Some 5
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Occurrence True Congenital Inferred relationship Some 3
X-linked agammaglobulinaemia Occurrence True Congenital Inferred relationship Some 1
X-linked agammaglobulinaemia with growth hormone deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 Occurrence False Congenital Inferred relationship Some 2
Proximal chromosome 18q deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Branchiootic syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive myogenic arthrogryposis multiplex congenita Occurrence False Congenital Inferred relationship Some 4
Autosomal dominant slowed nerve conduction velocity Occurrence True Congenital Inferred relationship Some 1
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Occurrence True Congenital Inferred relationship Some 1
Laing early-onset distal myopathy Occurrence False Congenital Inferred relationship Some 2
Intellectual disability Birk-Barel type Occurrence True Congenital Inferred relationship Some 1
Colobomatous microphthalmia Occurrence True Congenital Inferred relationship Some 2
Fundus albipunctatus Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy type 1B Occurrence False Congenital Inferred relationship Some 2
Congenital myopathy with internal nuclei and atypical cores Occurrence True Congenital Inferred relationship Some 1
Cryptorchidism, arachnodactyly, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Laubry Pezzi syndrome Occurrence True Congenital Inferred relationship Some 2
King Denborough syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome Occurrence True Congenital Inferred relationship Some 2
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Occurrence True Congenital Inferred relationship Some 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Occurrence True Congenital Inferred relationship Some 2
Familial thoracic aortic aneurysm and aortic dissection Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 9 syndrome Occurrence True Congenital Inferred relationship Some 2
Muscle filaminopathy Occurrence True Congenital Inferred relationship Some 1
Myopathy with hexagonally cross-linked tubular arrays Occurrence True Congenital Inferred relationship Some 1
Non-distal trisomy 13q Occurrence True Congenital Inferred relationship Some 1
Non-distal trisomy 9q Occurrence True Congenital Inferred relationship Some 1
Membranous ventricular septum defect Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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