OMOP Concept 37110832
5-amino-4-imidazole carboxamide ribosiduria
StandardConditionSNOMED725289009Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to 5-amino-4-imidazole carboxamide ribosiduria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563876 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | Non-standard |
Synonyms
Alternative names recorded for 5-amino-4-imidazole carboxamide ribosiduria across source vocabularies.
- 5-amino-4-imidazol carboxamida ribosiduria
- 5-amino-4-imidazol carboxamida ribosiduria (trastorno)
- 5-amino-4-imidazole carboxamide ribosiduria (disorder)
- AICA (5-amino-4-imidazole carboxamide) ribosiduria
- ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(64)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital anomaly of limb
- 1Congenital anomaly of macula
- 1Developmental hereditary disorder
- 1Disorder of purine metabolism
- 1Genetic intellectual disability
- 1Hereditary macular dystrophy
- 1Multiple malformation syndrome with limb defect as major feature
- 2Autosomal hereditary disorder
- 2Congenital anomaly of retina
- 2Congenital malformation
- 2Degenerative disorder of macula
- 2Developmental disorder
- 2Disorder of limb
- 2Disorder of macula of retina
- 2Disorder of purine and pyrimidine metabolism
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary retinal dystrophy
- 2Intellectual disability
- 2Multiple system malformation syndrome
- 3Abnormal behavior
- 3Congenital anomaly of posterior segment of eye
- 3Congenital disease
- 3Congenital malformation syndrome
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