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718577005: X-linked intellectual disability Atkin type (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3310203011 X-linked intellectual disability Atkin type en Synonym Active Case sensitive SNOMED CT core
3312823014 Atkin Flaitz syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atkin Flaitz syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Atkin Flaitz syndrome Associated morphology Enlargement true Inferred relationship Some 1
Atkin Flaitz syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Atkin Flaitz syndrome Interprets Height / growth measure true Inferred relationship Some 2
Atkin Flaitz syndrome Finding site Structure of head true Inferred relationship Some 1
Atkin Flaitz syndrome Has interpretation Above reference range true Inferred relationship Some 3
Atkin Flaitz syndrome Is a Congenital macrocephaly true Inferred relationship Some
Atkin Flaitz syndrome Interprets Head circumference true Inferred relationship Some 3
Atkin Flaitz syndrome Is a X-linked dominant hereditary disease true Inferred relationship Some
Atkin Flaitz syndrome Interprets Intellectual ability true Inferred relationship Some 4
Atkin Flaitz syndrome Has interpretation Impaired true Inferred relationship Some 4
Atkin Flaitz syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
Atkin Flaitz syndrome Has interpretation Impaired true Inferred relationship Some 5
Atkin Flaitz syndrome Is a Macrocephaly false Inferred relationship Some
Atkin Flaitz syndrome Is a Intellectual disability false Inferred relationship Some
Atkin Flaitz syndrome Is a X-linked hereditary disease false Inferred relationship Some
Atkin Flaitz syndrome Is a Short stature disorder true Inferred relationship Some
Atkin Flaitz syndrome Associated morphology Congenital enlargement false Inferred relationship Some 1
Atkin Flaitz syndrome Occurrence Congenital true Inferred relationship Some 1
Atkin Flaitz syndrome Finding site Entire head false Inferred relationship Some 1
Atkin Flaitz syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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