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33982008: Hyperphosphatasemia with intellectual disability (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1719841000168110 Hyperphosphatasia-intellectual disability syndrome en Synonym Active Case insensitive SNOMED Clinical Terms Australian extension
2995449017 Hyperphosphatasia with seizures and neurologic deficit en Synonym Active Case insensitive SNOMED CT core
2995744011 Mabry syndrome en Synonym Active Case sensitive SNOMED CT core
3643091012 Hyperphosphatasaemia with intellectual disability en Synonym Active Case insensitive SNOMED CT core
3643092017 Hyperphosphatasemia with intellectual disability (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3643098018 Hyperphosphatasemia with intellectual disability en Synonym Active Case insensitive SNOMED CT core
485701012 Hyperphosphatasaemia with mental retardation en Synonym Active Case insensitive SNOMED CT core
56735014 Hyperphosphatasemia with mental retardation en Synonym Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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