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1173998003: Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4639187018 Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4639188011 Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399442011 A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399443018 A rare genetic neurological disorder characterised by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4639187018 Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4639188011 Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4639189015 A rare genetic neurological disorder with characteristics of postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399442011 A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399443018 A rare genetic neurological disorder characterised by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420911001000116 Postnatale Microzephalie-infantile Hypotonie-spastische Diplegie-Dysarthrie-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6498711000241110 syndrome de microcéphalie postnatale, hypotonie infantile, diplégie spastique, dysarthrie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6498711000241110 syndrome de microcéphalie postnatale, hypotonie infantile, diplégie spastique, dysarthrie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420911001000116 Postnatale Microzephalie-infantile Hypotonie-spastische Diplegie-Dysarthrie-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
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Microcephaly (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Disorder of head (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 1
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Chronic mental disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 6
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 8
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 10
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 10

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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