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719160009: Syndromic X-linked intellectual disability type 7 (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315205019 Syndromic X-linked intellectual disability type 7 (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3315207010 Syndromic X-linked intellectual disability type 7 en Synonym Active Initial character case insensitive SNOMED CT core
3315208017 X-linked intellectual disability Ahmad type en Synonym Active Case sensitive SNOMED CT core
3315209013 This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndromic X-linked intellectual disability type 7 Pathological process Pathological developmental process true Inferred relationship Some 2
Syndromic X-linked intellectual disability type 7 Has interpretation Above reference range true Inferred relationship Some 3
Syndromic X-linked intellectual disability type 7 Is a Congenital disease true Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a Developmental hereditary disorder true Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a X-linked recessive hereditary disease true Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Interprets Intellectual ability true Inferred relationship Some 4
Syndromic X-linked intellectual disability type 7 Has interpretation Impaired true Inferred relationship Some 4
Syndromic X-linked intellectual disability type 7 Interprets Adaptation behaviour true Inferred relationship Some 5
Syndromic X-linked intellectual disability type 7 Has interpretation Impaired true Inferred relationship Some 5
Syndromic X-linked intellectual disability type 7 Is a Hypogonadism true Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a Intellectual disability false Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a X-linked hereditary disease false Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a Hereditary disorder of endocrine system true Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a Reproductive system hereditary disorder true Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a Obesity true Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Finding site Gonadal endocrine structure false Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Has definitional manifestation Obese false Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Occurrence Congenital true Inferred relationship Some 1
Syndromic X-linked intellectual disability type 7 Finding site Gonadal endocrine structure true Inferred relationship Some 1
Syndromic X-linked intellectual disability type 7 Is a Intellectual disability true Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Interprets Body weight measure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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