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


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3452241012 X-linked intellectual disability Hedera type en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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