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

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

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

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

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

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

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

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

3314340010 X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3899451000052111 syndrom med X-bunden recessiv intellektuell funktionsnedsättning och makrocefali med ciliär dysfunktion 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 recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	makrocefali	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

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
3314339013	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314340010	X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3899451000052111	syndrom med X-bunden recessiv intellektuell funktionsnedsättning och makrocefali med ciliär dysfunktion	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)