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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked sideroblastic anemia with spinocerebellar ataxia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Congenital deformity of left lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of right clavicle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of bilateral lower limbs Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital deformity of bilateral lower limbs Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of bilateral fingers Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital deformity of bilateral fingers Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of left clavicle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of right finger Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of right upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deformity of left finger Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital absence of right hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital bilateral short Achilles tendons Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital bilateral short Achilles tendons Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Congenital deformity of right lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Carbamoyl-phosphate synthetase 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Waardenburg Shah syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Waardenburg Shah syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Congenital bilateral short Achilles tendons Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Waardenburg syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Familial glucocorticoid deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Adult type polycystic kidney disease type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital arteriovenous malformation of right lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Adult type polycystic kidney disease type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant polycystic kidney disease in childhood Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital anomaly of cardiac chamber Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital arteriovenous malformation of left lower limb Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant polycystic kidney disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form Occurrence True Congenital Inferred relationship Existential restriction modifier 2
F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form Occurrence True Congenital Inferred relationship Existential restriction modifier 1
F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form Occurrence True Congenital Inferred relationship Existential restriction modifier 2
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ring chromosome 5 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ring chromosome 19 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ring chromosome 2 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ring chromosome 3 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Ring chromosome 6 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ring chromosome 7 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bilateral polymicrogyria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Alstrom syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital cyst of larynx Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Angio-osteohypotrophic syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Angio-osteohypotrophic syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephalic primordial dwarfism Montreal type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephalic primordial dwarfism Montreal type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Autosomal recessive spastic paraplegia type 45 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 45 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Axial mesodermal dysplasia spectrum Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Male infertility with azoospermia due to single gene mutation Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Hypertrophy of left kidney co-occurrent and due to congenital hypoplasia of right kidney Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of ilium Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of ischium Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of pubis Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Lack of ossification of pubis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of bone Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Male infertility with oligozoospermia due to single gene mutation Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Lack of ossification of ischium Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dysplasia of left kidney Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dysplasia of right kidney Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital left vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital left vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital right vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital right vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Distal monosomy 15q syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 17q syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 19q syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 1p36 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal trisomy 1p36 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lethal infantile mitochondrial myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deafness, nephritis, anorectal malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Deafness, nephritis, anorectal malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Deafness, nephritis, anorectal malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital absence of innominate vein Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome 6 Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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