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724002003: Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3428520010 Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3428521014 Rambaud Gallian syndrome en Synonym Active Case sensitive SNOMED CT core
3428522019 Rambaud Gallian Touchard syndrome en Synonym Active Case sensitive SNOMED CT core
3428523012 Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome en Synonym Active Case insensitive SNOMED CT core
3428524018 Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome en Synonym Active Case insensitive SNOMED CT core
3428525017 Syndrome that is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage. en Definition Active Case sensitive SNOMED CT core
3428526016 Syndrome that is characterised by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid haemorrhage. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a Cerebral calcification true Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a Retinal ischaemia true Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a Vascular degeneration true Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Finding site Retinal structure true Inferred relationship Some 2
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Associated morphology Hyaline degeneration true Inferred relationship Some 4
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Finding site Structure of small blood vessel (organ) true Inferred relationship Some 4
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Associated morphology Pathologic calcification true Inferred relationship Some 5
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Finding site Structure of cerebrum true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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