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726727003: 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
5403601014 X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an 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
5403602019 X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterised by an 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
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
5403601014 X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an 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
5403602019 X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterised by an 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
3412411001000118 Intelligenzminderung, X-chromosomale, Typ Hedera de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954801000172110 MRXSH - mental retardation, X-linked, syndromic, Hedera type fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975961000172115 déficience intellectuelle liée à l'X type Hedera fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954801000172110 MRXSH - mental retardation, X-linked, syndromic, Hedera type fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975961000172115 déficience intellectuelle liée à l'X type Hedera fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412411001000118 Intelligenzminderung, X-chromosomale, Typ Hedera de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 Existential restriction modifier (core metadata concept)
X-linked intellectual disability Hedera type (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Hedera type (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Hedera type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Hedera type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Hedera type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Hedera type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability Hedera type (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability Hedera type (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability Hedera type (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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