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723304001: Microcephaly, seizure, intellectual disability, heart disease 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
3423988014 Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3423989018 Microcephaly, seizure, intellectual disability, heart disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3423990010 This syndrome has characteristics of intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures and skeletal anomalies. It has been described in two males. 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
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) interprète (attribut) Birth head circumference true Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 1
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) Congenital microcephaly (disorder) true Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) microcéphalie false Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'encéphale false Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) trouble convulsif true Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est défini par la manifestation de (attribut) convulsion false Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale true Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease 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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