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


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
4639188011 Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core


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 Intellectual disability true Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Microcephaly true Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Disorder of head true Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Structure of head true Inferred relationship Some 2
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Head circumference true Inferred relationship Some 1
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation Below reference range true Inferred relationship Some 1
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Spinal cord structure true Inferred relationship Some 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 5
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Structure of lower limb false Inferred relationship Some 5
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a Chronic mental disorder false Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Clinical course Progressive true Inferred relationship Some 6
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Some 3
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 3
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Adaptation behaviour true Inferred relationship Some 7
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 7
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Movement true Inferred relationship Some 8
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Structure of right lower limb true Inferred relationship Some 5
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Finding site Structure of left lower limb true Inferred relationship Some 9
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets Movement observable true Inferred relationship Some 10
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation Absent true Inferred relationship Some 10

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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