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719160009: Syndromic X-linked intellectual disability type 7 (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
3315205019 Syndromic X-linked intellectual disability type 7 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315207010 Syndromic X-linked intellectual disability type 7 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315208017 X-linked intellectual disability Ahmad type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401978013 A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401979017 A rare, X-linked syndromic intellectual disability disorder characterised by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localised to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315205019 Syndromic X-linked intellectual disability type 7 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315207010 Syndromic X-linked intellectual disability type 7 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315208017 X-linked intellectual disability Ahmad type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5401978013 A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401979017 A rare, X-linked syndromic intellectual disability disorder characterised by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localised to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3384701001000110 Intelligenzminderung, X-chromosomale, syndromale Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909821000172111 déficience intellectuelle liée à l'X syndromique type 7 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011631000172116 déficience intellectuelle liée à l'X type Ahmad fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909821000172111 déficience intellectuelle liée à l'X syndromique type 7 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011631000172116 déficience intellectuelle liée à l'X type Ahmad fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384701001000110 Intelligenzminderung, X-chromosomale, syndromale Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndromic X-linked intellectual disability type 7 (disorder) Is a Hypogonadism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a Obesity true Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Has definitional manifestation Obese false Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndromic X-linked intellectual disability type 7 (disorder) Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndromic X-linked intellectual disability type 7 (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Syndromic X-linked intellectual disability type 7 (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndromic X-linked intellectual disability type 7 (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Syndromic X-linked intellectual disability type 7 (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Syndromic X-linked intellectual disability type 7 (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Syndromic X-linked intellectual disability type 7 (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
Syndromic X-linked intellectual disability type 7 (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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