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720978005: Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3322741010 Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3322742015 Asparagine-linked glycosylation 9 congenital disorder of glycosylation en Synonym Active Case insensitive SNOMED CT core
3322743013 ALG9 congenital disorder of glycosylation en Synonym Active Case sensitive SNOMED CT core
3322744019 Carbohydrate deficient glycoprotein syndrome type IL en Synonym Active Initial character case insensitive SNOMED CT core
3322745018 Congenital disorder of glycosylation type 1L en Synonym Active Initial character case insensitive SNOMED CT core
3322746017 Congenital disorder of glycosylation type IL en Synonym Active Initial character case insensitive SNOMED CT core
3322747014 Mannosyltransferase 7-9 deficiency en Synonym Active Case insensitive SNOMED CT core
3322748016 ALG9-CDG - asparagine-linked glycosylation 9 congenital disorder of glycosylation en Synonym Active Case sensitive SNOMED CT core
3322749012 A form of congenital disorders of N-linked glycosylation with characteristics of progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
ALG9 congenital disorder of glycosylation Is a Autosomal recessive hereditary disorder true Inferred relationship Some
ALG9 congenital disorder of glycosylation Is a Carbohydrate-deficient glycoprotein syndrome type I true Inferred relationship Some
ALG9 congenital disorder of glycosylation Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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