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725289009: 5-amino-4-imidazole carboxamide ribosiduria (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3440760015 5-amino-4-imidazole carboxamide ribosiduria (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3440761016 5-amino-4-imidazole carboxamide ribosiduria en Synonym Active Case insensitive SNOMED CT core
3440763018 ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency en Synonym Active Case sensitive SNOMED CT core
3780959012 AICA (5-amino-4-imidazole carboxamide) ribosiduria en Synonym Active Case sensitive SNOMED CT core
3440764012 An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous mutation in the ATIC gene on chromosome 2q35. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
5-amino-4-imidazole carboxamide ribosiduria Occurrence Congenital true Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria Pathological process Pathological developmental process true Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria Is a Congenital anomaly of macula true Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Pathological process Pathological developmental process true Inferred relationship Some 2
5-amino-4-imidazole carboxamide ribosiduria Finding site Macula lutea structure true Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
5-amino-4-imidazole carboxamide ribosiduria Associated morphology Dystrophy true Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria Is a Developmental hereditary disorder true Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Interprets Intellectual ability true Inferred relationship Some 3
5-amino-4-imidazole carboxamide ribosiduria Has interpretation Impaired true Inferred relationship Some 3
5-amino-4-imidazole carboxamide ribosiduria Interprets Adaptation behaviour true Inferred relationship Some 4
5-amino-4-imidazole carboxamide ribosiduria Has interpretation Impaired true Inferred relationship Some 4
5-amino-4-imidazole carboxamide ribosiduria Is a Disorder of purine metabolism true Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Is a Congenital anomaly of limb true Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Is a Autosomal recessive hereditary disorder true Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Is a Intellectual disability false Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Is a Hereditary macular dystrophy true Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Occurrence Congenital true Inferred relationship Some 2
5-amino-4-imidazole carboxamide ribosiduria Finding site Limb structure true Inferred relationship Some 2
5-amino-4-imidazole carboxamide ribosiduria Occurrence Congenital false Inferred relationship Some 3
5-amino-4-imidazole carboxamide ribosiduria Associated morphology Dystrophy false Inferred relationship Some 2
5-amino-4-imidazole carboxamide ribosiduria Finding site Macula lutea structure false Inferred relationship Some 2
5-amino-4-imidazole carboxamide ribosiduria Associated morphology Developmental abnormality false Inferred relationship Some 3
5-amino-4-imidazole carboxamide ribosiduria Finding site Limb structure false Inferred relationship Some 3
5-amino-4-imidazole carboxamide ribosiduria Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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