55236002: Infantile hypophosphatasia (disorder)

SNOMED CT Concept\Clinical finding (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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Hypophosphatasia\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

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

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

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

3012196012 Foetal 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
Infantile hypophosphatasia	Is a	Enzymopathy	true	Inferred relationship	Some
Infantile hypophosphatasia	Is a	Hypophosphatasia	true	Inferred relationship	Some
Infantile hypophosphatasia	Is a	Autosomal hereditary disorder	false	Inferred relationship	Some
Infantile hypophosphatasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Infantile hypophosphatasia	Finding site	Body system structure	false	Inferred relationship	Some
Infantile hypophosphatasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets