30174008: Childhood hypophosphatasia (disorder)

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

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism\Hypophosphatasia\Childhood hypophosphatasia

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood hypophosphatasia

\Metabolic disease\Inborn error of metabolism\Hypophosphatasia\Childhood hypophosphatasia
\Metabolic disease\Enzymopathy\Childhood hypophosphatasia
\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Hypophosphatasia\Childhood hypophosphatasia

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

50489017 Childhood hypophosphatasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

50490014 Hypophosphatasia, childhood type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

50491013 Juvenile hypophosphatasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

761149017 Childhood hypophosphatasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

792001000052115 hypofosfatasi i barndomen sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Childhood hypophosphatasia	Is a	Hypophosphatasia	true	Inferred relationship	Some
Childhood hypophosphatasia	Is a	Autosomal hereditary disorder	false	Inferred relationship	Some
Childhood hypophosphatasia	Is a	Enzymopathy	true	Inferred relationship	Some
Childhood hypophosphatasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Childhood hypophosphatasia	Finding site	Body system structure	false	Inferred relationship	Some
Childhood hypophosphatasia	Occurrence	Childhood	true	Inferred relationship	Some	1
Childhood 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