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720982007: Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322764012 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322765013 Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322771019 AMME complex en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322772014 AMME syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322773016 This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. 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
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) Deletion of long arm true Inferred relationship Some 2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) Sex chromosome X (cell structure) true Inferred relationship Some 2
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) Glomerulus structure true Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) Chronic inflammation true Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) interprète (attribut) Red blood cell count true Inferred relationship Some 7
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 8
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) Erythrocyte true Inferred relationship Some 9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) Elliptocyte (cell) true Inferred relationship Some 9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) interprète (attribut) Hemolysis (observable entity) true Inferred relationship Some 6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) interprète (attribut) Measurement of total haemoglobin concentration true Inferred relationship Some 8
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) a pour interprétation (attribut) présent (valeur de l'attribut) true Inferred relationship Some 6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 7
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) Anomaly of chromosome X true Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) X-linked hereditary disease true Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) Hereditary elliptocytosis true Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) Congenital nephritis true Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) Hereditary nephritis (disorder) true Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) Erythrocyte false Inferred relationship Some 6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) Deletion of long arm false Inferred relationship Some 5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 5
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) Chronic inflammation false Inferred relationship Some 6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) Glomerulus structure false Inferred relationship Some 6
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif false Inferred relationship Some 9
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) interprète (attribut) Hearing, function (observable entity) false Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) syndrome d'Alport false Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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