33982008: Hyperphosphatasemia with intellectual disability (disorder)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\Hyperphosphatasaemia with intellectual disability

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperphosphatasaemia with intellectual disability

\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\Hyperphosphatasaemia with intellectual disability

\Mental disorder\Developmental mental disorder\Intellectual disability\Hyperphosphatasaemia with intellectual disability

\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Hyperphosphatasaemia with intellectual disability
\Developmental disorder\Developmental hereditary disorder\Hyperphosphatasaemia with intellectual disability

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

56735014 Hyperphosphatasemia with mental retardation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
485701012 Hyperphosphatasaemia with mental retardation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
765450016 Hyperphosphatasemia with mental retardation (disorder) en Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
2995449017 Hyperphosphatasia with seizures and neurologic deficit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995744011 Mabry syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643091012 Hyperphosphatasaemia with intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643092017 Hyperphosphatasemia with intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643098018 Hyperphosphatasemia with intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
277281000052116 hyperfosfatasemi med psykisk utvecklingsstörning 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
Hyperphosphatasaemia with intellectual disability	Is a	Disorder of phosphate, calcium and vitamin D metabolism	false	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	Is a	Disorder of phosphorus metabolism	true	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	Is a	mental retardation	false	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	Finding site	Brain structure	false	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	Is a	Intellectual disability	true	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hyperphosphatasaemia with intellectual disability	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets