724178000: syndroom van paralyse van laryngeale abductor en verstandelijke beperking (aandoening)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Finding of neck region\Larynx finding (finding)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of neck region\Larynx finding (finding)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of neck region\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of neck region\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of neck region\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Finding of movement (finding)\Loss of motor function\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of movement (finding)\Gross movement of body and limbs - finding\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Ear, nose and throat finding\Upper respiratory tract finding\Larynx finding (finding)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Ear, nose and throat finding\Upper respiratory tract finding\Larynx finding (finding)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Respiratory finding\Upper respiratory tract finding\Larynx finding (finding)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Respiratory finding\Upper respiratory tract finding\Larynx finding (finding)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Respiratory condition of fetus OR newborn\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Hereditary myopathy (disorder)\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Disorder of skeletal muscle\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Musculoskeletal disorder of the neck\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Disorder of skeletal muscle\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Neurological finding\Motor nervous system finding\Motor dysfunction\...

\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Paralysis\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Respiratory condition of fetus OR newborn\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Respiratory condition of fetus OR newborn\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal disorder of the neck\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of neck (disorder)\Musculoskeletal disorder of the neck\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Congenital disorder of larynx (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Movement disorder\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Movement disorder\Paralysis of larynx\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Cervical myopathy (disorder)\Congenital laryngeal abductor palsy\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Laryngeal abductor paralysis with intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	Congenital laryngeal abductor palsy	true	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Finding site	Structure of posterior cricoarytenoid muscle	true	Inferred relationship	Some	1
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	3
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	Paralysis of larynx	true	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Interprets	Gross movement of body and limbs	true	Inferred relationship	Some	2
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	2
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some

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
3431566018	Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431567010	Laryngeal abductor paralysis with intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431568017	Plott syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6738221000146114	syndroom van Plott	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6942331000146111	syndroom van paralyse van laryngeale abductor en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495081000146110	syndroom van paralyse van laryngeale abductor en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7718701000146116	syndroom van paralyse van laryngeale abductor en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3431569013	This syndrome has characteristics of congenital and permanent laryngeal abductor paralysis and mental deficiency. It has been described in several families. X-linked inheritance is likely.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core