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68504005: Ataxia-telangiectasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
113782012 Ataxia-telangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
113783019 Louis-Bar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1233052011 Ataxia telangiectasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
198531000172119 syndrome d'ataxie-télangiectasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
2966626011 Ataxia telangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
457151000241115 ataxie-télangiectasie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
594411000172111 ataxie-télangiectasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
808347012 Ataxia-telangiectasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ataxia-telangiectasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ataxia-telangiectasia syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Ataxia-telangiectasia syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 6
Ataxia-telangiectasia syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) complication liée au système nerveux central true Inferred relationship Some
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) Blood vessel structure (body structure) true Inferred relationship Some 1
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) Structure of central nervous system (body structure) false Inferred relationship Some 2
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure du système vasculaire périphérique false Inferred relationship Some
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 1
Ataxia-telangiectasia syndrome morphologie associée (attribut) Telangiectasis false Inferred relationship Some 3
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3
Ataxia-telangiectasia syndrome est un(e) (attribut) Congenital anomaly of skin false Inferred relationship Some
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) Microscopic skin vascular structure false Inferred relationship Some 1
Ataxia-telangiectasia syndrome morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Ataxia-telangiectasia syndrome morphologie associée (attribut) Telangiectasis false Inferred relationship Some 3
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 5
Ataxia-telangiectasia syndrome morphologie associée (attribut) Telangiectasis false Inferred relationship Some 4
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 2
Ataxia-telangiectasia syndrome est un(e) (attribut) Disorder of soft tissue of body cavity false Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Spinocerebellar disease true Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Multiple malformation syndrome with unusual brain and/or neuromuscular findings true Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Congenital immunodeficiency disease true Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) télangiectasies true Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Congenital anomaly of integument false Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Immunodeficiency associated with chromosomal abnormality true Inferred relationship Some
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 3
Ataxia-telangiectasia syndrome morphologie associée (attribut) Telangiectasis false Inferred relationship Some 1
Ataxia-telangiectasia syndrome morphologie associée (attribut) Telangiectasis false Inferred relationship Some 2
Ataxia-telangiectasia syndrome associé à (attribut) anomalie chromosomique true Inferred relationship Some 3
Ataxia-telangiectasia syndrome est défini par la manifestation de (attribut) Immune system finding false Inferred relationship Some
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 4
Ataxia-telangiectasia syndrome est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Hereditary disorder of immune system true Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Ataxia-telangiectasia syndrome morphologie associée (attribut) Telangiectasis true Inferred relationship Some 1
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) Microscopic skin vascular structure false Inferred relationship Some 1
Ataxia-telangiectasia syndrome est un(e) (attribut) Peripheral vascular disease associated with another disorder false Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) syndrome familial avec prédisposition aux cancers (trouble) true Inferred relationship Some
Ataxia-telangiectasia syndrome survenue (attribut) congénital true Inferred relationship Some 2
Ataxia-telangiectasia syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some
Ataxia-telangiectasia syndrome morphologie associée (attribut) Telangiectasis false Inferred relationship Some 2
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) Blood vessel structure (body structure) false Inferred relationship Some
Ataxia-telangiectasia syndrome survenue (attribut) congénital false Inferred relationship Some
Ataxia-telangiectasia syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure du système immunitaire false Inferred relationship Some
Ataxia-telangiectasia syndrome localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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