55236002: Infantile hypophosphatasia (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Hypophosphatasia\hypophosphatasie infantile (trouble)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\hypophosphatasie infantile (trouble)

\trouble métabolique\Inborn error of metabolism\Hypophosphatasia\hypophosphatasie infantile (trouble)
\trouble métabolique\Enzymopathy\hypophosphatasie infantile (trouble)
\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of phosphate, calcium and vitamin D metabolism\Hypophosphatasia\hypophosphatasie infantile (trouble)

\Congenital disease\Inborn error of metabolism\Hypophosphatasia\hypophosphatasie infantile (trouble)

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

1009431000172116 maladie de Rathburn infantile fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3012196012 Foetal hypophosphatasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

442081000241110 hypophosphatasie infantile (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

497162013 Phosphoethanolaminuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

497163015 Rathbun syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

793556018 Infantile hypophosphatasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

891191000172110 hypophosphatasie infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

91833019 Infantile hypophosphatasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

91834013 Hypophosphatasia, infantile type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

91835014 Congenital hypophosphatasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

91836010 Fetal hypophosphatasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
hypophosphatasie infantile (trouble)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
hypophosphatasie infantile (trouble)	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
hypophosphatasie infantile (trouble)	est un(e) (attribut)	Hypophosphatasia	true	Inferred relationship	Some
hypophosphatasie infantile (trouble)	est un(e) (attribut)	Autosomal hereditary disorder	false	Inferred relationship	Some
hypophosphatasie infantile (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
hypophosphatasie infantile (trouble)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)