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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
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Occurrence False Congenital Inferred relationship Some 4
Familial glucocorticoid deficiency Occurrence False Congenital Inferred relationship Some 1
Adult type polycystic kidney disease type 2 Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of right lower limb Occurrence True Congenital Inferred relationship Some 1
Adult type polycystic kidney disease type 1 Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant polycystic kidney disease in childhood Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Occurrence True Congenital Inferred relationship Some 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of cardiac chamber Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of left lower limb Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant polycystic kidney disease Occurrence True Congenital Inferred relationship Some 1
Fatal infantile lactic acidosis with methylmalonic aciduria Occurrence True Congenital Inferred relationship Some 2
Fatal infantile lactic acidosis with methylmalonic aciduria Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome encephalomyopathic form Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome encephalomyopathic form Occurrence True Congenital Inferred relationship Some 2
FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy Occurrence True Congenital Inferred relationship Some 1
FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy Occurrence True Congenital Inferred relationship Some 2
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome Occurrence False Congenital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Ring chromosome 5 syndrome Occurrence True Congenital Inferred relationship Some 1
Ring chromosome 19 syndrome Occurrence True Congenital Inferred relationship Some 1
Ring chromosome 2 syndrome Occurrence True Congenital Inferred relationship Some 1
Ring chromosome 3 syndrome Occurrence True Congenital Inferred relationship Some 1
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Occurrence True Congenital Inferred relationship Some 1
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Occurrence False Congenital Inferred relationship Some 2
Ring chromosome 6 syndrome Occurrence True Congenital Inferred relationship Some 1
Ring chromosome 7 syndrome Occurrence True Congenital Inferred relationship Some 1
Bilateral polymicrogyria Occurrence True Congenital Inferred relationship Some 1
Alstrom syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cyst of larynx Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Occurrence True Congenital Inferred relationship Some 1
Angioosteohypotrophic syndrome Occurrence True Congenital Inferred relationship Some 1
Angioosteohypotrophic syndrome Occurrence True Congenital Inferred relationship Some 2
Microcephalic primordial dwarfism Montreal type Occurrence True Congenital Inferred relationship Some 2
Microcephalic primordial dwarfism Montreal type Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Occurrence False Congenital Inferred relationship Some 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Occurrence True Congenital Inferred relationship Some 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Occurrence True Congenital Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Occurrence True Congenital Inferred relationship Some 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 45 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 45 Occurrence False Congenital Inferred relationship Some 1
Axial mesodermal dysplasia spectrum Occurrence True Congenital Inferred relationship Some 1
Male infertility with azoospermia due to single gene mutation Occurrence False Congenital Inferred relationship Some 5
Hypertrophy of left kidney co-occurrent and due to congenital hypoplasia of right kidney Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of ilium Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of ischium Occurrence False Congenital Inferred relationship Some 1
Incomplete ossification of pubis Occurrence False Congenital Inferred relationship Some 1
Lack of ossification of pubis Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification Occurrence True Congenital Inferred relationship Some 1
Pure gonadal dysgenesis 46,XX Occurrence False Congenital Inferred relationship Some
Coloboma of eyelid Occurrence False Congenital Inferred relationship Some
Pure gonadal dysgenesis 46,XY Occurrence False Congenital Inferred relationship Some
Pure gonadal dysgenesis Occurrence False Congenital Inferred relationship Some
Retrocaval ureter Occurrence False Congenital Inferred relationship Some
Retro-oesophageal aortic arch Occurrence False Congenital Inferred relationship Some
Retro-oesophageal carotid artery Occurrence False Congenital Inferred relationship Some
Retro-oesophageal pulmonary artery Occurrence False Congenital Inferred relationship Some
Retro-oesophageal subclavian artery Occurrence False Congenital Inferred relationship Some
Reverse posterior crossbite Occurrence False Congenital Inferred relationship Some
Rhinocephaly Occurrence False Congenital Inferred relationship Some
Right-sided pulmonary arterial trunk Occurrence False Congenital Inferred relationship Some
Rolland-Debuqois syndrome Occurrence False Congenital Inferred relationship Some
Sacral hemivertebra Occurrence False Congenital Inferred relationship Some
Hartsfield syndrome Occurrence True Congenital Inferred relationship Some 1
Hartsfield syndrome Occurrence True Congenital Inferred relationship Some 2
Male infertility with oligozoospermia due to single gene mutation Occurrence False Congenital Inferred relationship Some 4
Lack of ossification of ischium Occurrence True Congenital Inferred relationship Some 1
Dysplasia of left kidney Occurrence True Congenital Inferred relationship Some 1
Dysplasia of right kidney Occurrence True Congenital Inferred relationship Some 1
Congenital left vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Some 1
Congenital left vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Some 2
Short supernumerary rib Occurrence False Congenital Inferred relationship Some
Congenital right vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Some 1
Congenital right vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Some 2
Single naris Occurrence False Congenital Inferred relationship Some
Sinus venosus atrial septal defect Occurrence False Congenital Inferred relationship Some
Tetrasomy 12p syndrome Occurrence False Congenital Inferred relationship Some
Supernumerary arch of cervical vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary arch of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary arch of sacral vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary arch of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary azygos vein Occurrence False Congenital Inferred relationship Some
Supernumerary calcaneus Occurrence False Congenital Inferred relationship Some
Supernumerary caudal vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary centrum of cervical vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary centrum of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary centrum of sacral vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary centrum of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary cervical vertebra Occurrence False Congenital Inferred relationship Some
Supernumerary forepaw phalanx Occurrence False Congenital Inferred relationship Some
Supernumerary fused sternebra Occurrence False Congenital Inferred relationship Some
Supernumerary hindpaw phalanx Occurrence False Congenital Inferred relationship Some
Supernumerary liver lobe Occurrence False Congenital Inferred relationship Some
Distal monosomy 15q Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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