702416008: spermine synthase deficiency (aandoening)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Snyder-Robinson syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Snyder-Robinson syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Snyder-Robinson syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Snyder-Robinson syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Snyder-Robinson syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Snyder-Robinson syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Snyder-Robinson syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Snyder-Robinson syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995295014 Snyder-Robinson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995857013 Snyder-Robinson x-linked mental retardation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3009072014 Mental retardation, x-linked, Snyder-Robinson type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3643145019 X-linked intellectual disability Snyder type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643146018 X-linked intellectual disability Snyder type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

115421000146118 spermine synthase deficiency nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

115431000146116 syndroom van Snyder-Robinson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

980701000146114 spermine synthase deficiency (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Snyder-Robinson syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Snyder-Robinson syndrome	Is a	mentale retardatie	false	Inferred relationship	Some
Snyder-Robinson syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Snyder-Robinson syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Snyder-Robinson syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Snyder-Robinson syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Snyder-Robinson syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Snyder-Robinson syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Snyder-Robinson syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Snyder-Robinson syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets