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733032006: syndroom van epilepsie en teleangiëctasie (aandoening)

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
6800751000146117 syndroom van epilepsie en teleangiëctasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6800761000146119 syndroom van epilepsie en teleangiëctasie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Is a Congenital anomaly of finger false Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Epilepsy true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Conjunctival telangiectasis true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Brachydactyly of hand true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Lesion of conjunctiva (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Has definitional manifestation Seizure false Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Epilepsy telangiectasia syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 7
Epilepsy telangiectasia syndrome (disorder) Finding site Entire little finger false Inferred relationship Some 7
Epilepsy telangiectasia syndrome (disorder) Finding site Cerebrum false Inferred relationship Some 5
Epilepsy telangiectasia syndrome (disorder) Associated morphology Telangiectasis false Inferred relationship Some 8
Epilepsy telangiectasia syndrome (disorder) Finding site Conjunctival structure false Inferred relationship Some 8
Epilepsy telangiectasia syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Epilepsy telangiectasia syndrome (disorder) Finding site Conjunctival structure true Inferred relationship Some 3
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Epilepsy telangiectasia syndrome (disorder) Associated morphology 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) Occurrence Congenital true Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) Is a Congenital anomaly of anterior segment of eye (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Epilepsy telangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) Is a Congenital anomaly of ocular adnexa (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Epilepsy telangiectasia syndrome (disorder) Finding site Face structure true Inferred relationship Some 4
Epilepsy telangiectasia syndrome (disorder) Finding site Entire little finger true Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) Finding site Cerebrum true Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) Is a Congenital structural abnormality of orbit proper (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Epilepsy telangiectasia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Epilepsy telangiectasia syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Epilepsy telangiectasia syndrome (disorder) Is a Reduction deformity of finger (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Congenital neurological disorder (disorder) true Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a Soft tissue defect (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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