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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
Cystinaemia Occurrence False Congenital Inferred relationship Some
Tyrosinaemia Occurrence False Congenital Inferred relationship Some
Leucinosis Occurrence False Congenital Inferred relationship Some
Isoleucinosis Occurrence False Congenital Inferred relationship Some
Cystathioninaemia Occurrence False Congenital Inferred relationship Some
Hyperammonaemia Occurrence False Congenital Inferred relationship Some
Hyperglycinaemia 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 acidaemia Occurrence False Congenital Inferred relationship Some
Alaninaemia Occurrence False Congenital Inferred relationship Some
Hyperprolinaemia 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
Hyperlipidaemia, group A Occurrence False Congenital Inferred relationship Some
High density lipoid deficiency Occurrence False Congenital Inferred relationship Some
Hypo-beta-lipoproteinaemia 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
Hyperuricaemia 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 Occurrence True Congenital Inferred relationship Some 1
Enterokinase deficiency 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 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 True Congenital Inferred relationship Some 3
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders Occurrence True Congenital Inferred relationship Some 3
Common variable immunodeficiency with autoantibodies to B- or T-cells Occurrence True 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 Occurrence False Congenital Inferred relationship Some
Syringomyelia and syringobulbia Occurrence False Congenital Inferred relationship Some
Epileptic seizures - myoclonic 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
Paternal uniparental disomy of chromosome 5 Occurrence True Congenital Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome Occurrence True Congenital Inferred relationship Some 1
Non-distal monosomy 10q Occurrence True Congenital Inferred relationship Some 2
Non-distal monosomy 10q Occurrence True Congenital Inferred relationship Some 1
Congenital web of oesophagus Occurrence True Congenital Inferred relationship Some 1
Tetrasomy 11q24.1 Occurrence True Congenital Inferred relationship Some 1
Ectasia of left atrial appendage Occurrence True Congenital Inferred relationship Some 1
Infantile spasm and broad thumb syndrome Occurrence True Congenital Inferred relationship Some 4
Infantile spasm and broad thumb syndrome Occurrence True Congenital Inferred relationship Some 3
Infantile spasm and broad thumb syndrome Occurrence True Congenital Inferred relationship Some 1
Infantile spasm and broad thumb syndrome Occurrence True Congenital Inferred relationship Some 2
Uterus unicornis Occurrence True Congenital Inferred relationship Some 1
Monosomy 13q14 syndrome Occurrence True Congenital Inferred relationship Some 1
Monosomy 13q14 syndrome Occurrence True Congenital Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type Occurrence True Congenital Inferred relationship Some 1
Microcephalic primordial dwarfism Alazami type Occurrence True Congenital Inferred relationship Some 2
Maternal uniparental disomy of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Lissencephaly syndrome Norman Roberts type Occurrence True Congenital Inferred relationship Some 2
Lissencephaly due to LIS1 mutation Occurrence True Congenital Inferred relationship Some 1
Genetic transient congenital hypothyroidism Occurrence True Congenital Inferred relationship Some 1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Distal 17p13.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Distal 17p13.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence True Congenital Inferred relationship Some 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence True Congenital Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Occurrence True Congenital Inferred relationship Some 2
Familial bicuspid aortic valve Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 14q syndrome Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 14q syndrome Occurrence True Congenital Inferred relationship Some 2
Desmin-related myofibrillar myopathy Occurrence True Congenital Inferred relationship Some 1
Congenital upper oesophageal web Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of cervical spinal canal Occurrence True Congenital Inferred relationship Some 1
Brachydactyly type B2 Occurrence True Congenital Inferred relationship Some 2
Brachydactyly type B2 Occurrence True Congenital Inferred relationship Some 1
Ectasia of right atrial appendage Occurrence True Congenital Inferred relationship Some 1
Type 2 lissencephaly Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of entire upper limb Occurrence True Congenital Inferred relationship Some 1
Type 1 lissencephaly Occurrence True Congenital Inferred relationship Some 1
Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 2
Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 3
Prader-Willi-like syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive chorioretinopathy and microcephaly syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive chorioretinopathy and microcephaly syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive chorioretinopathy and microcephaly syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked spondyloepimetaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 13 Occurrence True Congenital Inferred relationship Some 1
Non-distal trisomy 10q Occurrence True Congenital Inferred relationship Some 1
Ring chromosome 12 syndrome Occurrence True Congenital Inferred relationship Some 1
Isochromosomy Yq Occurrence True Congenital Inferred relationship Some 1
Pseudounicornuate uterus Occurrence True Congenital Inferred relationship Some 1
Congenital right ventricular aneurysm Occurrence True Congenital Inferred relationship Some 1
Progeroid syndrome Petty type Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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