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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
5403679010 A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403680013 A rare, genetic, epilepsy syndrome characterised by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403679010 A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403680013 A rare, genetic, epilepsy syndrome characterised by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443911001000112 Epilepsie-Teleangiektasie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105821000241118 syndrome d'épilepsie et télangiectasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105821000241118 syndrome d'épilepsie et télangiectasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443911001000112 Epilepsie-Teleangiektasie-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
Epilepsy telangiectasia syndrome (disorder) Is a Congenital anomaly of finger true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Conjunctival telangiectasis true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Brachydactyly of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Lesion of conjunctiva (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Epilepsy telangiectasia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Epilepsy telangiectasia syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Epilepsy telangiectasia syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 7
Epilepsy telangiectasia syndrome (disorder) Finding site Entire little finger false Inferred relationship Existential restriction modifier (core metadata concept) 7
Epilepsy telangiectasia syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 5
Epilepsy telangiectasia syndrome (disorder) Associated morphology Telangiectasis false Inferred relationship Existential restriction modifier (core metadata concept) 8
Epilepsy telangiectasia syndrome (disorder) Finding site Conjunctival structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Epilepsy telangiectasia syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Epilepsy telangiectasia syndrome (disorder) Finding site Conjunctival structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Epilepsy telangiectasia syndrome (disorder) Associated morphology Telangiectasis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Epilepsy telangiectasia syndrome (disorder) Is a Congenital anomaly of anterior segment of eye (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Epilepsy telangiectasia syndrome (disorder) Is a Congenital anomaly of ocular adnexa (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Epilepsy telangiectasia syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Epilepsy telangiectasia syndrome (disorder) Finding site Entire little finger true Inferred relationship Existential restriction modifier (core metadata concept) 1
Epilepsy telangiectasia syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Existential restriction modifier (core metadata concept) 2
Epilepsy telangiectasia syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 1
Epilepsy telangiectasia syndrome (disorder) Is a Congenital structural abnormality of orbit proper (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy telangiectasia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Epilepsy telangiectasia syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Epilepsy telangiectasia syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Epilepsy telangiectasia syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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