33982008: Hyperphosphatasemia with intellectual disability (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Hyperphosphatasemia with intellectual disability (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Hyperphosphatasemia with intellectual disability (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Hyperphosphatasemia with intellectual disability (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Hyperphosphatasemia with intellectual disability (disorder)

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

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperphosphatasemia with intellectual disability (disorder)	Is a	Disorder of phosphate, calcium and vitamin D metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with intellectual disability (disorder)	Is a	Disorder of phosphorus metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with intellectual disability (disorder)	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with intellectual disability (disorder)	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with intellectual disability (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with intellectual disability (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with intellectual disability (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hyperphosphatasemia with intellectual disability (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with intellectual disability (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hyperphosphatasemia with intellectual disability (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hyperphosphatasemia with intellectual disability (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hyperphosphatasemia with intellectual disability (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (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
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
56735014	Hyperphosphatasemia with mental retardation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
765450016	Hyperphosphatasemia with mental retardation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995449017	Hyperphosphatasia with seizures and neurologic deficit	en	Synonym (core metadata concept)	Active	Only initial character 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
3442911001000117	Hyperphosphatasie-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280051000241110	syndrome de Mabry	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280061000241113	hyperphosphatasie alcaline avec retard mental	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280071000241117	hyperphosphatasémie avec déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280051000241110	syndrome de Mabry	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280061000241113	hyperphosphatasie alcaline avec retard mental	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6280071000241117	hyperphosphatasémie avec déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442911001000117	Hyperphosphatasie-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module