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733032006: Epilepsy telangiectasia 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
3498610017 Epilepsy telangiectasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498611018 Epilepsy telangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499938018 Syndrome with characteristics of intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum immunoglobulin antibody, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait. 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
Epilepsy telangiectasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Epilepsy telangiectasia syndrome (disorder) localisation d'une constatation (attribut) structure d'une conjonctive true Inferred relationship Some 3
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Epilepsy telangiectasia syndrome (disorder) morphologie associée (attribut) Telangiectasis true Inferred relationship Some 3
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Epilepsy telangiectasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of anterior segment of eye (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of ocular adnexa true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Epilepsy telangiectasia syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 4
Epilepsy telangiectasia syndrome (disorder) localisation d'une constatation (attribut) Entire little finger true Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) localisation d'une constatation (attribut) structure du cerveau true Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of orbit proper (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of finger true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Epilepsy true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Conjunctival telangiectasis true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Brachydactyly of hand true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Lesion of conjunctiva (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est défini par la manifestation de (attribut) convulsion false Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Epilepsy telangiectasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Epilepsy telangiectasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Epilepsy telangiectasia syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 7
Epilepsy telangiectasia syndrome (disorder) localisation d'une constatation (attribut) Entire little finger false Inferred relationship Some 7
Epilepsy telangiectasia syndrome (disorder) localisation d'une constatation (attribut) structure du cerveau false Inferred relationship Some 5
Epilepsy telangiectasia syndrome (disorder) morphologie associée (attribut) Telangiectasis false Inferred relationship Some 8
Epilepsy telangiectasia syndrome (disorder) localisation d'une constatation (attribut) structure d'une conjonctive false Inferred relationship Some 8
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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