773274001: X-linked intellectual disability, craniofacioskeletal syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability, craniofacioskeletal syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability, craniofacioskeletal syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, craniofacioskeletal syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, craniofacioskeletal syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, craniofacioskeletal syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked intellectual disability, craniofacioskeletal syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked intellectual disability, craniofacioskeletal syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability, craniofacioskeletal syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, craniofacioskeletal syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked intellectual disability, craniofacioskeletal syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3722846018	X-linked intellectual disability, craniofacioskeletal syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3722847010	X-linked intellectual disability, craniofacioskeletal syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3722848017	A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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