190859005: Hypophosphatasia (disorder)

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

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

\Disorder of foetus and/or newborn\Congenital 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

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

293437016 Hypophosphatasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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

3442081001000110 Hypophosphatasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

882921000172117 hypophosphatasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

887901000172110 HPP - hypophosphatasie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

882921000172117 hypophosphatasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

887901000172110 HPP - hypophosphatasie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3442081001000110 Hypophosphatasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Existential restriction modifier (core metadata concept)
Hypophosphatasia	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypophosphatasia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypophosphatasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adult hypophosphatasia	Is a	True	Hypophosphatasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Childhood hypophosphatasia	Is a	True	Hypophosphatasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile hypophosphatasia (disorder)	Is a	True	Hypophosphatasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal phosphaturia	Is a	True	Hypophosphatasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Odontohypophosphatasia (disorder)	Is a	True	Hypophosphatasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodontitis co-occurrent with hypophosphatasia	Is a	False	Hypophosphatasia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets