718896000: X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3314339013 X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3314340010 X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Finding site	Structure of head	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Interprets	Head circumference	true	Inferred relationship	Some	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Is a	Macrocephaly	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	Finding site	Entire head	false	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314339013	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314340010	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core