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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
Congenital ovarian dysplasia Occurrence False Congenital Inferred relationship Some
Congenital epiblepharon-inferior oblique syndrome Occurrence False Congenital Inferred relationship Some
Swan's syndrome II Occurrence False Congenital Inferred relationship Some
Brachycephalic dwarfism Occurrence False Congenital Inferred relationship Some
Embedded tooth Occurrence False Congenital Inferred relationship Some
Aganglionosis of Auerbach's plexus Occurrence False Congenital Inferred relationship Some
Congenital prolapse of bladder Occurrence False Congenital Inferred relationship Some
Congenital megacolon Occurrence False Congenital Inferred relationship Some
Aganglionosis of colon Occurrence False Congenital Inferred relationship Some
Mesonephric cyst Occurrence False Congenital Inferred relationship Some
Wolffian cyst Occurrence False Congenital Inferred relationship Some
Common atrioventricular canal Occurrence False Congenital Inferred relationship Some
Congenital stenosis of small intestine Occurrence False Congenital Inferred relationship Some
Congenital atresia of jejunum Occurrence False Congenital Inferred relationship Some
Malrotation of the intestine type IIID Occurrence False Congenital Inferred relationship Some
Familial megaloblastic anaemia Occurrence True Congenital Inferred relationship Some 3
Dandy-Walker syndrome Occurrence False Congenital Inferred relationship Some
Henck-Assman disease Occurrence False Congenital Inferred relationship Some
Infantile malignant osteopetrosis Occurrence False Congenital Inferred relationship Some
Chondrodysplasia punctata congenita Occurrence False Congenital Inferred relationship Some
Choroideraemia with deafness and obesity syndrome Occurrence False Congenital Inferred relationship Some 1
Choroideraemia with deafness and obesity syndrome Occurrence True Congenital Inferred relationship Some 2
Deafness, small bowel diverticulosis, neuropathy syndrome Occurrence True Congenital Inferred relationship Some 5
Deafness, small bowel diverticulosis, neuropathy syndrome Occurrence True Congenital Inferred relationship Some 6
Deafness, small bowel diverticulosis, neuropathy syndrome Occurrence True Congenital Inferred relationship Some 7
Polydactyly myopia syndrome Occurrence True Congenital Inferred relationship Some 2
Polydactyly myopia syndrome Occurrence False Congenital Inferred relationship Some 3
Preaxial polydactyly, colobomata, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Preaxial polydactyly, colobomata, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 3
Spastic paraplegia, nephritis, deafness syndrome Occurrence True Congenital Inferred relationship Some 7
Spastic paraplegia, nephritis, deafness syndrome Occurrence False Congenital Inferred relationship Some 9
Microcephalus, digital anomaly, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 2
Microcephalus, digital anomaly, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 3
Mikati Najjar Sahli syndrome Occurrence True Congenital Inferred relationship Some 3
Mikati Najjar Sahli syndrome Occurrence False Congenital Inferred relationship Some 4
Mikati Najjar Sahli syndrome Occurrence False Congenital Inferred relationship Some 5
Dandy-Walker malformation with postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 5
Dandy-Walker malformation with postaxial polydactyly syndrome Occurrence False Congenital Inferred relationship Some 7
Mononen Karnes Senac syndrome Occurrence True Congenital Inferred relationship Some 2
Mononen Karnes Senac syndrome Occurrence False Congenital Inferred relationship Some 3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome Occurrence True Congenital Inferred relationship Some 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome Occurrence False Congenital Inferred relationship Some 3
Van den Bosch syndrome Occurrence False Congenital Inferred relationship Some 5
Van den Bosch syndrome Occurrence False Congenital Inferred relationship Some 6
Van den Bosch syndrome Occurrence False Congenital Inferred relationship Some 7
Congenital disorder of glycosylation type 1w Occurrence True Congenital Inferred relationship Some 1
Congenital disorder of glycosylation type 1x Occurrence True Congenital Inferred relationship Some 1
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 3
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 4
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 5
SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence True Congenital Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence False Congenital Inferred relationship Some 3
Thumb stiffness, brachydactyly, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Thumb stiffness, brachydactyly, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 3
Anomalous origin of right subclavian artery Occurrence False Congenital Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Occurrence True Congenital Inferred relationship Some 2
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Occurrence False Congenital Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence False Congenital Inferred relationship Some 11
Acrocephalopolysyndactyly type IV Occurrence True Congenital Inferred relationship Some 3
Acrocephalopolysyndactyly type IV Occurrence False Congenital Inferred relationship Some 4
16p11.2p12.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
17q12 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
17q12 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 3
20q13.33 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
20q13.33 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 3
Distal 16p11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 3
Megalocornea with intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital epulis of newborn Occurrence False Congenital Inferred relationship Some
Congenital gingival granular cell tumour Occurrence False Congenital Inferred relationship Some
Congenital anomaly of trachea Occurrence False Congenital Inferred relationship Some
Congenital absence of upper limb Occurrence False Congenital Inferred relationship Some
Diplomyelia Occurrence False Congenital Inferred relationship Some 2
Vestigial remnants of canal of Cloquet Occurrence False Congenital Inferred relationship Some
Myeloschisis Occurrence True Congenital Inferred relationship Some 3
Microstomia Occurrence False Congenital Inferred relationship Some
Late-infantile neuronal ceroid lipofuscinosis Occurrence True Congenital Inferred relationship Some 2
Uterus cordiformis Occurrence False Congenital Inferred relationship Some
Gouty tophus of pinna Occurrence False Congenital Inferred relationship Some
20q partial trisomy Occurrence False Congenital Inferred relationship Some
Situs ambiguus Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis, type IB Occurrence False Congenital Inferred relationship Some
Abdominal heart Occurrence False Congenital Inferred relationship Some
Congenital anomaly of large intestine Occurrence False Congenital Inferred relationship Some
Aarskog syndrome Occurrence False Congenital Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome Occurrence True Congenital Inferred relationship Some 6
Excessively long umbilical cord Occurrence False Congenital Inferred relationship Some
Retinal dystrophy in systemic lipidosis Occurrence True Congenital Inferred relationship Some 2
Russell-Silver syndrome Occurrence False Congenital Inferred relationship Some
Congenital insufficiency of pulmonary valve Occurrence False Congenital Inferred relationship Some
Congenital stricture of bile duct Occurrence False Congenital Inferred relationship Some
Congenital transposition of stomach Occurrence False Congenital Inferred relationship Some
Coffin-Lowry syndrome Occurrence False Congenital Inferred relationship Some
Congenital phlebectasia Occurrence False Congenital Inferred relationship Some
Origin of innominate artery from left side of aortic arch Occurrence False Congenital Inferred relationship Some
Isolated hereditary congenital facial paralysis Occurrence False Congenital Inferred relationship Some 3
Atrophia bulborum hereditaria Occurrence False Congenital Inferred relationship Some
Facial asymmetry Occurrence False Congenital Inferred relationship Some
Adenylosuccinate lyase deficiency Occurrence False Congenital Inferred relationship Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency Occurrence False Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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