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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
[X]Late congenital syphilis, unspecified Occurrence False Congenital Inferred relationship Some
[X]Congenital syphilis, unspecified Occurrence False Congenital Inferred relationship Some
Pseudomonas pyocyaneus congenital infection Occurrence True Congenital Inferred relationship Some 1
Keutel syndrome Occurrence True Congenital Inferred relationship Some 1
Chondrodystrophy malacia Occurrence False Congenital Inferred relationship Some 1
Chondrodystrophy malacia Occurrence False Congenital Inferred relationship Some 2
Hypoplastic chondrodystrophy Occurrence True Congenital Inferred relationship Some 1
Clutton's joints Occurrence True Congenital Inferred relationship Some 1
Hyperplastic chondrodystrophy Occurrence False Congenital Inferred relationship Some 1
Keutel syndrome Occurrence True Congenital Inferred relationship Some 4
Late congenital syphilitic polyneuropathy Occurrence True Congenital Inferred relationship Some 1
Other specified congenital hypothyroidism Occurrence False Congenital Inferred relationship Some
Amino acid transport disorder NOS Occurrence False Congenital Inferred relationship Some
Disturbance of aromatic amino acid metabolism NOS Occurrence False Congenital Inferred relationship Some
Other specified disturbance of branched chain amino acid metabolism Occurrence False Congenital Inferred relationship Some
Disturbance of branched chain amino acid metabolism NOS Occurrence False Congenital Inferred relationship Some
Other specified disturbance of sulphur-bearing amino acid metabolism Occurrence False Congenital Inferred relationship Some
Other specified disturbance of histidine metabolism Occurrence False Congenital Inferred relationship Some
Disturbance of histidine metabolism NOS Occurrence False Congenital Inferred relationship Some
Other specified disturbance of urea cycle metabolism Occurrence False Congenital Inferred relationship Some
Disturbance of urea cycle metabolism NOS Occurrence False Congenital Inferred relationship Some
Disturbance of other straight chain amino acid metabolism Occurrence False Congenital Inferred relationship Some
Disturbance of other straight chain amino acid metabolism NOS Occurrence False Congenital Inferred relationship Some
Disturbance of other specified amino acid metabolism Occurrence False Congenital Inferred relationship Some
Disturbance of other specified amino acid metabolism NOS Occurrence False Congenital Inferred relationship Some
Disturbance of amino acid transport or metabolism NOS Occurrence False Congenital Inferred relationship Some
Other specified glycogenosis Occurrence False Congenital Inferred relationship Some
Glycogenosis NOS Occurrence False Congenital Inferred relationship Some
Oxaluria NEC Occurrence False Congenital Inferred relationship Some
Other specified pure hypercholesterolaemia Occurrence False Congenital Inferred relationship Some
Pure hypercholesterolaemia NOS Occurrence False Congenital Inferred relationship Some
Hyperlipidaemia NOS Occurrence False Congenital Inferred relationship Some
Lipoprotein deficiency NOS Occurrence False Congenital Inferred relationship Some
Other disorders of lipoid metabolism Occurrence False Congenital Inferred relationship Some
Other disorder of lipoid metabolism NOS Occurrence False Congenital Inferred relationship Some
Disorder of lipoid metabolism NOS Occurrence False Congenital Inferred relationship Some
Gout NOS Occurrence False Congenital Inferred relationship Some
Porphyria NOS Occurrence False Congenital Inferred relationship Some
Other disorder of purine or pyrimidine metabolism NOS Occurrence False Congenital Inferred relationship Some
Other specified congenital hyperbilirubinaemia Occurrence False Congenital Inferred relationship Some
Congenital hyperbilirubinaemia NOS Occurrence False Congenital Inferred relationship Some
Other specified mucopolysaccharidosis Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis NOS Occurrence False Congenital Inferred relationship Some
Combined immunity deficiency NOS Occurrence False Congenital Inferred relationship Some
Syringomyelia or syringobulbia NOS Occurrence False Congenital Inferred relationship Some
Congenital hypertrophic pyloric stenosis Occurrence True Congenital Inferred relationship Some 1
14q22q23 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
14q22q23 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
14q22q23 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
14q22q23 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 4
Ogden syndrome Occurrence True Congenital Inferred relationship Some 1
Mottled tooth NOS Occurrence False Congenital Inferred relationship Some
Micrognathism unspecified Occurrence False Congenital Inferred relationship Some
Prognathism NOS Occurrence False Congenital Inferred relationship Some
Retrognathism NOS Occurrence False Congenital Inferred relationship Some
Crossbite unspecified Occurrence False Congenital Inferred relationship Some
Open-bite unspecified Occurrence False Congenital Inferred relationship Some
Tooth crowding NOS Occurrence False Congenital Inferred relationship Some
Abnormal tooth spacing NOS Occurrence False Congenital Inferred relationship Some
Impacted and buried teeth NOS Occurrence False Congenital Inferred relationship Some
Tooth position anomaly NOS Occurrence False Congenital Inferred relationship Some
Solitary arterial trunk Occurrence True Congenital Inferred relationship Some 1
Keutel syndrome Occurrence True Congenital Inferred relationship Some 2
Jawad syndrome Occurrence False Congenital Inferred relationship Some 2
Jawad syndrome Occurrence False Congenital Inferred relationship Some 3
Jawad syndrome Occurrence True Congenital Inferred relationship Some 1
Acquired oesophageal diverticulum NOS Occurrence False Congenital Inferred relationship Some
Keutel syndrome Occurrence True Congenital Inferred relationship Some 3
Solute carrier family 35 member A2 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
PENS syndrome Occurrence True Congenital Inferred relationship Some 2
PENS syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Occurrence False Congenital Inferred relationship Some 4
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 3
Severe combined immunodeficiency due to CARD11 deficiency Occurrence True Congenital Inferred relationship Some 1
Autism spectrum disorder due to AUTS2 deficiency Occurrence True Congenital Inferred relationship Some 1
15q overgrowth syndrome Occurrence True Congenital Inferred relationship Some 4
15q overgrowth syndrome Occurrence True Congenital Inferred relationship Some 1
15q overgrowth syndrome Occurrence True Congenital Inferred relationship Some 3
15q overgrowth syndrome Occurrence True Congenital Inferred relationship Some 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Occurrence True Congenital Inferred relationship Some 1
Thrombocythaemia with distal limb defect Occurrence True Congenital Inferred relationship Some 3
Umbilical hernia with gangrene NOS Occurrence False Congenital Inferred relationship Some
Umbilical hernia with obstruction NOS Occurrence False Congenital Inferred relationship Some
Umbilical hernia - irreducible and NOS Occurrence False Congenital Inferred relationship Some
Simple umbilical hernia NOS Occurrence False Congenital Inferred relationship Some
Unspecified umbilical hernia Occurrence False Congenital Inferred relationship Some
Unspecified omphalocele Occurrence False Congenital Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Occurrence True Congenital Inferred relationship Some 2
Unspecified paraumbilical hernia Occurrence False Congenital Inferred relationship Some
Unspecified umbilical hernia NOS Occurrence False Congenital Inferred relationship Some
Umbilical hernia NOS Occurrence False Congenital Inferred relationship Some
Brachyolmia Occurrence True Congenital Inferred relationship Some 1
Trichodental syndrome Occurrence True Congenital Inferred relationship Some 1
Left renal agenesis co-occurrent with right renal hypoplasia Occurrence True Congenital Inferred relationship Some 1
Generalised junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Extralobar bronchopulmonary sequestration Occurrence True Congenital Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome Occurrence True Congenital Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome Occurrence True Congenital Inferred relationship Some 4

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Reference Sets

Qualifier value foundation reference set

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