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719011002: X-linked intellectual disability Pai type (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3314661010 X-linked intellectual disability Pai type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314662015 X-linked intellectual disability Pai type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401915016 A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401916015 A rare X-linked syndromic intellectual disability characterised by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability Pai type (disorder) Is a Mental retardation false Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a Congenital malformation syndrome (disorder) true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
X-linked intellectual disability Pai type (disorder) Has interpretation Impaired true Inferred relationship Some 2
X-linked intellectual disability Pai type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
X-linked intellectual disability Pai type (disorder) Has interpretation Impaired true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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