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763743003: Intellectual disability, spasticity, ectrodactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643599017 Jancar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643600019 Intellectual disability, spasticity, ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643601015 Intellectual disability, spasticity, ectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643602010 A rare intellectual disability syndrome with characteristics of severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
14040791000172117 syndrome de déficience intellectuelle, spasticité et ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14040801000172116 syndrome de Jancar fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4648951000172119 syndroom van verstandelijke beperking, spasticiteit en ectrodactylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4648961000172117 syndroom van Jancar nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4648971000172114 Jancar-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability, spasticity, ectrodactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a Ectrodactyly true Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a Intellectual disability true Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a Congenital paraplegia false Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a Spastic paraplegia false Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Occurrence Congenital false Inferred relationship Some 3
Intellectual disability, spasticity, ectrodactyly syndrome Finding site Structure of central nervous system (body structure) false Inferred relationship Some 3
Intellectual disability, spasticity, ectrodactyly syndrome Occurrence Congenital false Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Intellectual disability, spasticity, ectrodactyly syndrome Finding site Entire digit true Inferred relationship Some 2
Intellectual disability, spasticity, ectrodactyly syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Intellectual disability, spasticity, ectrodactyly syndrome Finding site Lower limb structure (body structure) false Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Intellectual disability, spasticity, ectrodactyly syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Intellectual disability, spasticity, ectrodactyly syndrome Is a Adactyly false Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Intellectual disability, spasticity, ectrodactyly syndrome Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a Chronic mental disorder false Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Intellectual disability, spasticity, ectrodactyly syndrome Finding site Lower limb structure (body structure) false Inferred relationship Some 4
Intellectual disability, spasticity, ectrodactyly syndrome Finding site Spinal cord structure true Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Intellectual disability, spasticity, ectrodactyly syndrome Has interpretation Impaired true Inferred relationship Some 5
Intellectual disability, spasticity, ectrodactyly syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Intellectual disability, spasticity, ectrodactyly syndrome Has interpretation Impaired true Inferred relationship Some 6
Intellectual disability, spasticity, ectrodactyly syndrome Interprets Movement true Inferred relationship Some 7
Intellectual disability, spasticity, ectrodactyly syndrome Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Intellectual disability, spasticity, ectrodactyly syndrome Finding site Structure of left lower limb (body structure) true Inferred relationship Some 8
Intellectual disability, spasticity, ectrodactyly syndrome Interprets Movement observable true Inferred relationship Some 9
Intellectual disability, spasticity, ectrodactyly syndrome Has interpretation Absent true Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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