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33982008: Hyperphosphatasemia with intellectual disability (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Hyperphosphatasemia with intellectual disability

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hyperphosphatasemia with intellectual disability
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Hyperphosphatasemia with intellectual disability
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Hyperphosphatasemia with intellectual disability

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hyperphosphatasemia with intellectual disability
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperphosphatasemia with intellectual disability
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\Hyperphosphatasemia with intellectual disability
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hyperphosphatasemia with intellectual disability
\Disease\Developmental disorder\Developmental hereditary disorder\Hyperphosphatasemia with intellectual disability

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

56735014 Hyperphosphatasemia with mental retardation en Synonym Active Entire term case insensitive SNOMED CT core module
485701012 Hyperphosphatasaemia with mental retardation en Synonym Active Entire term case insensitive SNOMED CT core module
765450016 Hyperphosphatasemia with mental retardation (disorder) en Fully specified name Inactive Entire term case insensitive SNOMED CT core module
2995449017 Hyperphosphatasia with seizures and neurologic deficit en Synonym Active Entire term case insensitive SNOMED CT core module
2995744011 Mabry syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3643091012 Hyperphosphatasaemia with intellectual disability en Synonym Active Entire term case insensitive SNOMED CT core module
3643092017 Hyperphosphatasemia with intellectual disability (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3643098018 Hyperphosphatasemia with intellectual disability en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperphosphatasemia with intellectual disability	Is a	Disorder of phosphate, calcium and vitamin D metabolism	false	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with intellectual disability	Is a	Disorder of phosphorus metabolism	true	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with intellectual disability	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with intellectual disability	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with intellectual disability	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with intellectual disability	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with intellectual disability	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with intellectual disability	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with intellectual disability	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with intellectual disability	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	3
Hyperphosphatasemia with intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
56735014	Hyperphosphatasemia with mental retardation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
485701012	Hyperphosphatasaemia with mental retardation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
765450016	Hyperphosphatasemia with mental retardation (disorder)	en	Fully specified name	Inactive	Entire term case insensitive	SNOMED CT core module
2995449017	Hyperphosphatasia with seizures and neurologic deficit	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2995744011	Mabry syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3643091012	Hyperphosphatasaemia with intellectual disability	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643092017	Hyperphosphatasemia with intellectual disability (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3643098018	Hyperphosphatasemia with intellectual disability	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module