33982008: hyperfosfatasemie met verstandelijke beperking (aandoening)

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

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

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

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

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	mentale retardatie	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
Hyperphosphatasaemia with intellectual disability	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Hyperphosphatasaemia with intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Some	2
Hyperphosphatasaemia with intellectual disability	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Hyperphosphatasaemia with intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Some	3
Hyperphosphatasaemia with intellectual disability	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
6762201000146114	hyperfosfatasemie met mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6762231000146116	syndroom van Mabry	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494781000146112	hyperfosfatasemie met verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7564021000146119	hyperfosfatasemie met verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7564031000146117	hyperfosfatasemie met verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)