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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
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
3431569013 This syndrome has characteristics of congenital and permanent laryngeal abductor paralysis and mental deficiency. It has been described in several families. X-linked inheritance is likely. en Definition 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
3425111001000112 Laryngeale Abduktorenlähmung-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896231000172113 syndrome de Plott fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933641000172110 syndrome de paralysie du larynx-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
896231000172113 syndrome de Plott fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933641000172110 syndrome de paralysie du larynx-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3425111001000112 Laryngeale Abduktorenlähmung-Intelligenzminderung-Syndrom 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
Laryngeal abductor paralysis with intellectual disability syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Is a Congenital laryngeal abductor palsy true Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngeal abductor paralysis with intellectual disability syndrome Finding site Structure of posterior cricoarytenoid muscle (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngeal abductor paralysis with intellectual disability syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Laryngeal abductor paralysis with intellectual disability syndrome Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Laryngeal abductor paralysis with intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Is a Paralysis of larynx (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Laryngeal abductor paralysis with intellectual disability syndrome Interprets Gross movement of body and limbs (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Laryngeal abductor paralysis with intellectual disability syndrome Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 2
Laryngeal abductor paralysis with intellectual disability syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngeal abductor paralysis with intellectual disability syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Laryngeal abductor paralysis with intellectual disability syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Laryngeal abductor paralysis with intellectual disability syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
Laryngeal abductor paralysis with intellectual disability syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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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