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232059000: syndroom van Laurence-Moon (aandoening)

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

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Laurence-Moon syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Laurence-Moon syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Laurence-Moon syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Laurence-Moon syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Laurence-Moon syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Laurence-Moon syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Laurence-Moon syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Laurence-Moon syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Laurence-Moon syndrome

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
Laurence-Moon syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Laurence-Moon syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Laurence-Moon syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Laurence-Moon syndrome	Is a	mentale retardatie	false	Inferred relationship	Some
Laurence-Moon syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Laurence-Moon syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Laurence-Moon syndrome	Finding site	Brain structure	false	Inferred relationship	Some
Laurence-Moon syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Laurence-Moon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Laurence-Moon syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Laurence-Moon syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Laurence-Moon syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Laurence-Moon syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Laurence-Moon syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Laurence-Moon syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Laurence-Moon syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Laurence-Moon syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Laurence-Moon syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
347710015	Laurence-Moon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
620075014	Laurence-Moon syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
372551000146118	syndroom van Laurence-Moon	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
372561000146115	syndroom van Laurence-Moon (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10300691000146112	Syndroom met als kenmerken overgewicht, verstandelijke achterstand, extra vinger en/of teen en achterstand in geslachtelijke ontwikkeling.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)