719825000: X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, macrocephaly, macroorchidism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\X-linked intellectual disability, macrocephaly, macroorchidism syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318057011	Johnson syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318059014	X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3318060016	X-linked intellectual disability, macrocephaly, macroorchidism syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318058018	This syndrome has characteristics of intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been located to the q12-q21 region of the X chromosome.	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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