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

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)

\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
\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 (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\X-linked intellectual disability, macrocephaly, macroorchidism syndrome (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

3318057011 Johnson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3318059014 X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3318060016 X-linked intellectual disability, macrocephaly, macroorchidism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3928381000052115 syndrom med X-bunden intellektuell funktionsnedsättning, makrocefali och makroorkidism sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	makrocefali	false	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	1
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Some	1
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	2
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	2
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318057011	Johnson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318059014	X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318060016	X-linked intellectual disability, macrocephaly, macroorchidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3928381000052115	syndrom med X-bunden intellektuell funktionsnedsättning, makrocefali och makroorkidism	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)