55236002: Infantile hypophosphatasia (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Hypophosphatasia\Infantile hypophosphatasia
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile hypophosphatasia
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hypophosphatasia\Infantile hypophosphatasia
• \Metabolic disease\Enzymopathy\Infantile hypophosphatasia
• \Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Hypophosphatasia\Infantile hypophosphatasia
• \Congenital disease\Inborn error of metabolism\Hypophosphatasia\Infantile hypophosphatasia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3012196012	Foetal hypophosphatasia	en	Synonym	Active	Case insensitive	SNOMED CT core
497162013	Phosphoethanolaminuria	en	Synonym	Active	Case insensitive	SNOMED CT core
497163015	Rathbun syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
793556018	Infantile hypophosphatasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
91833019	Infantile hypophosphatasia	en	Synonym	Active	Case insensitive	SNOMED CT core
91834013	Hypophosphatasia, infantile type	en	Synonym	Active	Case insensitive	SNOMED CT core
91835014	Congenital hypophosphatasia	en	Synonym	Active	Case insensitive	SNOMED CT core
91836010	Fetal hypophosphatasia	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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