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724178000: 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:

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
5403269016 A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403270015 A rare X-linked syndromic intellectual disability characterised by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features. 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
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) Is a Mental retardation 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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