255399007: congenitaal (kwalificatiewaarde)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital	Is a	Periods of life	false	Inferred relationship	Some
Congenital	Is a	Fetal and/or neonatal period	true	Inferred relationship	Some

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

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
380598010	Congenital	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
380599019	Congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
646433016	Congenital (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440841000146116	congenitaal	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3440851000146118	congenitaal (kwalificatiewaarde)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3440861000146115	aangeboren	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)