190859005: Hypophosphatasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Hypophosphatasia

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hypophosphatasia
\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Hypophosphatasia

\Congenital disease (disorder)\Inborn error of metabolism\Hypophosphatasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

293437016 Hypophosphatasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293438014 Alkaline phosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
574492015 Hypophosphatasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
882921000172117 hypophosphatasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
887901000172110 HPP - hypophosphatasie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
876361000172117 fosfo-ethanolaminurie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
877271000172118 hypofosfatasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypophosphatasia	Is a	Disorder of phosphate, calcium and vitamin D metabolism	true	Inferred relationship	Some
Hypophosphatasia	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Hypophosphatasia	Finding site	Body system structure	false	Inferred relationship	Some
Hypophosphatasia	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adult hypophosphatasia	Is a	True	Hypophosphatasia	Inferred relationship	Some
Childhood hypophosphatasia	Is a	True	Hypophosphatasia	Inferred relationship	Some
Infantile hypophosphatasia	Is a	True	Hypophosphatasia	Inferred relationship	Some
Renal phosphaturia	Is a	True	Hypophosphatasia	Inferred relationship	Some
Odontohypophosphatasia (disorder)	Is a	True	Hypophosphatasia	Inferred relationship	Some
parodontitis gelijktijdig met hypofosfatasie	Is a	False	Hypophosphatasia	Inferred relationship	Some

Reference Sets