33982008: Hyperphosphatasemia with intellectual disability (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Developmental hereditary disorder\Hyperphosphatasaemia with intellectual disability

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

\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\Hyperphosphatasaemia with intellectual disability

\trouble mental\troubles mentaux du développement\Intellectual disability\Hyperphosphatasaemia with intellectual disability

\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Hyperphosphatasaemia with intellectual disability
\trouble du développement\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

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

485701012 Hyperphosphatasaemia with mental retardation 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 Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperphosphatasaemia with intellectual disability	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hyperphosphatasaemia with intellectual disability	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	est un(e) (attribut)	Disorder of phosphate, calcium and vitamin D metabolism	false	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	est un(e) (attribut)	Disorder of phosphorus metabolism	true	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)