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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
Congenital diverticulum of lacrimal canaliculus Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital obstruction of lacrimal canaliculus Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital strabismus Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of third eyelid Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital cartilage anomaly of third eyelid Occurrence False Congenital Inferred relationship Existential restriction modifier
Hypopigmentation of third eyelid Occurrence False Congenital Inferred relationship Existential restriction modifier
Developmental dysplasia of inner ear Occurrence False Congenital Inferred relationship Existential restriction modifier
Low set ears Occurrence False Congenital Inferred relationship Existential restriction modifier
Pseudoporphyria Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital brain damage Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital flaccid paralysis Occurrence False Congenital Inferred relationship Existential restriction modifier
Epstein's pearl of mouth Occurrence False Congenital Inferred relationship Existential restriction modifier
Hypoplasia of iris Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital hearing disorder Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital deafness Occurrence False Congenital Inferred relationship Existential restriction modifier
Facial hemiatrophy Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital dislocation of radial head Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital stenosis of trachea Occurrence False Congenital Inferred relationship Existential restriction modifier
Hyperphosphatasemia with bone disease Occurrence False Congenital Inferred relationship Existential restriction modifier
Macroencephaly Occurrence False Congenital Inferred relationship Existential restriction modifier
Anorectal agenesis Occurrence False Congenital Inferred relationship Existential restriction modifier
Umbilical hernia with gangrene AND obstruction Occurrence False Congenital Inferred relationship Existential restriction modifier
Anomaly of chromosome pair 20 Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of cardiovascular system Occurrence False Congenital Inferred relationship Existential restriction modifier
Mobile kidney Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital syphilitic choroiditis Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of toe Occurrence False Congenital Inferred relationship Existential restriction modifier
Anomaly of chromosome pair Occurrence False Congenital Inferred relationship Existential restriction modifier
Branchial cleft anomaly Occurrence False Congenital Inferred relationship Existential restriction modifier
Complement component deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of abdomen Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of back Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of body cavity Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of body wall Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of cardiovascular structure of trunk Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of epidermal appendages Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of lower trunk Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of lymphatic structure of trunk Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of musculoskeletal structure of trunk Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of musculoskeletal system by body site Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of neural structure of trunk Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of thorax Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of tympanic anulus Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital anomaly of upper trunk Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital bacterial disorder Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital immunodeficiency involving the hematopoietic system Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Hypolipoproteinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Dermatoglyphs - skin lines Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital syphilitic gumma Occurrence False Congenital Inferred relationship Existential restriction modifier
Late congenital syphilitic oculopathy Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorders of amino acid transport and metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Cystinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Tyrosinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Leucinosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Isoleucinosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Cystathioninemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Hyperammonemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Hyperglycinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of threonine metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Disturbance of serine metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of glutamine metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Pipecolic acidemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Alaninemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Hyperprolinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Iminoacidopathy Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorders of pyruvate metabolism and gluconeogenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hyperbetalipoproteinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Hyperlipidemia, group A Occurrence False Congenital Inferred relationship Existential restriction modifier
High density lipoid deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Hypo-beta-lipoproteinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Tophus of hand co-occurrent and due to gout Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorders of porphyrin metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital porphyria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Coproporphyria Occurrence False Congenital Inferred relationship Existential restriction modifier
Xanthinuria Occurrence False Congenital Inferred relationship Existential restriction modifier
Hyperuricemia without signs of inflammatory arthritis and tophaceous disease Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorders of bilirubin excretion Occurrence False Congenital Inferred relationship Existential restriction modifier
Defect in post-translational modification of lysosomal enzymes Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Enterokinase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Trypsinogen deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thymic aplasia or dysplasia with immunodeficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Severe combined immunodeficiency with reticular dysgenesis Occurrence False Congenital Inferred relationship Existential restriction modifier 6
Severe combined immunodeficiency with low T- and B-cell numbers Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe combined immunodeficiency with low or normal B-cell numbers Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Major histocompatibility complex class I deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Major histocompatibility complex class II deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Common variable immunodeficiency with autoantibodies to B- or T-cells Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Hereditary vascular fragility Occurrence False Congenital Inferred relationship Existential restriction modifier
Retinal dystrophy in cerebroretinal lipidosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cerebral degeneration in Hunter's disease Occurrence False Congenital Inferred relationship Existential restriction modifier
Cerebral degeneration in mucopolysaccharidosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Syringomyelia and syringobulbia Occurrence False Congenital Inferred relationship Existential restriction modifier
Epileptic seizures - myoclonic Occurrence False Congenital Inferred relationship Existential restriction modifier
Eyelid vascular anomalies Occurrence False Congenital Inferred relationship Existential restriction modifier
Crater-like optic disc holes Occurrence False Congenital Inferred relationship Existential restriction modifier
Impacted incisors Occurrence False Congenital Inferred relationship Existential restriction modifier
Impacted premolars Occurrence False Congenital Inferred relationship Existential restriction modifier
Impacted molars Occurrence False Congenital Inferred relationship Existential restriction modifier

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