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725912001: X-linked intellectual disability Brooks type (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3446392010 X-linked intellectual disability Brooks type (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3446393017 X-linked intellectual disability Brooks type en Synonym Active Case sensitive SNOMED CT core
3446394011 Brooks Wisniewski Brown syndrome en Synonym Active Case sensitive SNOMED CT core
3446395012 A rare X-linked intellectual disability syndrome with characteristics of failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures. en Definition Inactive Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability Brooks type Pathological process Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Brooks type Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Brooks type Interprets Intellectual ability true Inferred relationship Some 2
X-linked intellectual disability Brooks type Has interpretation Impaired true Inferred relationship Some 2
X-linked intellectual disability Brooks type Interprets Adaptation behaviour true Inferred relationship Some 3
X-linked intellectual disability Brooks type Has interpretation Impaired true Inferred relationship Some 3
X-linked intellectual disability Brooks type Is a Intellectual disability false Inferred relationship Some
X-linked intellectual disability Brooks type Is a X-linked hereditary disease true Inferred relationship Some
X-linked intellectual disability Brooks type 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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