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718577005: X-linked intellectual disability Atkin type (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
3310201013 X-linked intellectual disability Atkin type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3310203011 X-linked intellectual disability Atkin type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312823014 Atkin Flaitz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312824015 Atkin-Flaitz syndrome has characteristics of moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. 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
X-linked intellectual disability Atkin type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Atkin type (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) true Inferred relationship Some 1
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 2
X-linked intellectual disability Atkin type (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 1
X-linked intellectual disability Atkin type (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 3
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) Congenital macrocephaly (disorder) true Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) interprète (attribut) Head circumference true Inferred relationship Some 3
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) X-linked dominant hereditary disease (disorder) true Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) Macrocephaly false Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 1
X-linked intellectual disability Atkin type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
X-linked intellectual disability Atkin type (disorder) localisation d'une constatation (attribut) Entire head false Inferred relationship Some 1
X-linked intellectual disability Atkin type (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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