726727003: X-linked intellectual disability Hedera type (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked intellectual disability Hedera type (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability Hedera type (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Hedera type (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Hedera type (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Hedera type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Hedera type (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Hedera type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Hedera type (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3452240013 X-linked intellectual disability Hedera type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3452241012 X-linked intellectual disability Hedera type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3452242017 A rare X-linked intellectual disability syndrome characterized by onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3452243010 A rare X-linked intellectual disability syndrome characterised by onset in infancy of delayed motor and speech milestones, generalised tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

954801000172110 MRXSH - mental retardation, X-linked, syndromic, Hedera type fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

975961000172115 déficience intellectuelle liée à l'X type Hedera fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

977111000172113 MRXSH - mental retardation, X-linked, syndromic, Hedera type nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

1016781000172118 X-gebonden intellectuele achterstand, Hedera-type nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3452240013	X-linked intellectual disability Hedera type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3452241012	X-linked intellectual disability Hedera type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3452242017	A rare X-linked intellectual disability syndrome characterized by onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3452243010	A rare X-linked intellectual disability syndrome characterised by onset in infancy of delayed motor and speech milestones, generalised tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
954801000172110	MRXSH - mental retardation, X-linked, syndromic, Hedera type	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
975961000172115	déficience intellectuelle liée à l'X type Hedera	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
977111000172113	MRXSH - mental retardation, X-linked, syndromic, Hedera type	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
1016781000172118	X-gebonden intellectuele achterstand, Hedera-type	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)