722213009: Severe X-linked intellectual disability Gustavson type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Severe X-linked intellectual disability Gustavson type

\Central nervous system finding\Disorder of the central nervous system\...

\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type

\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type

\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type

\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type

\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type

\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe X-linked intellectual disability Gustavson type
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Severe X-linked intellectual disability Gustavson type
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Severe X-linked intellectual disability Gustavson type

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe X-linked intellectual disability Gustavson type
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked intellectual disability Gustavson type
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
\Disease\Congenital disease\Congenital atrophy of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
\Disease\Congenital disease\Congenital hearing disorder\Severe X-linked intellectual disability Gustavson type
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe X-linked intellectual disability Gustavson type
\Disease\Developmental disorder\Developmental hereditary disorder\Severe X-linked intellectual disability Gustavson type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of optic nerve\Severe X-linked intellectual disability Gustavson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Severe X-linked intellectual disability Gustavson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Severe X-linked intellectual disability Gustavson type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3331173015 Severe X-linked intellectual disability Gustavson type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3331175010 Severe X-linked intellectual disability Gustavson type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe X-linked intellectual disability Gustavson type	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	4
Severe X-linked intellectual disability Gustavson type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Severe X-linked intellectual disability Gustavson type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Severe X-linked intellectual disability Gustavson type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Severe X-linked intellectual disability Gustavson type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Severe X-linked intellectual disability Gustavson type	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Severe X-linked intellectual disability Gustavson type	Associated morphology	Atrophy	false	Inferred relationship	Existential restriction modifier	5
Severe X-linked intellectual disability Gustavson type	Finding site	Optic nerve structure	false	Inferred relationship	Existential restriction modifier	5
Severe X-linked intellectual disability Gustavson type	Is a	Congenital atrophy of optic nerve	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	4
Severe X-linked intellectual disability Gustavson type	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	4
Severe X-linked intellectual disability Gustavson type	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Finding site	Optic nerve structure	true	Inferred relationship	Existential restriction modifier	3
Severe X-linked intellectual disability Gustavson type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked intellectual disability Gustavson type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Severe X-linked intellectual disability Gustavson type	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier	3
Severe X-linked intellectual disability Gustavson type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Severe X-linked intellectual disability Gustavson type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Severe X-linked intellectual disability Gustavson type	Is a	Congenital anomaly of optic nerve	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked intellectual disability Gustavson type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Severe X-linked intellectual disability Gustavson type	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
Severe X-linked intellectual disability Gustavson type	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Severe X-linked intellectual disability Gustavson type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked intellectual disability Gustavson type	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked intellectual disability Gustavson type	Is a	Inherited optic neuropathy	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Congenital hearing disorder	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	4
Severe X-linked intellectual disability Gustavson type	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Interprets	Hearing, function	false	Inferred relationship	Existential restriction modifier	5
Severe X-linked intellectual disability Gustavson type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	5
Severe X-linked intellectual disability Gustavson type	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Severe X-linked intellectual disability Gustavson type	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
Severe X-linked intellectual disability Gustavson type	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	6
Severe X-linked intellectual disability Gustavson type	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Severe X-linked intellectual disability Gustavson type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Severe X-linked intellectual disability Gustavson type	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Severe X-linked intellectual disability Gustavson type	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	7
Severe X-linked intellectual disability Gustavson type	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7
Severe X-linked intellectual disability Gustavson type	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	8
Severe X-linked intellectual disability Gustavson type	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	8

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3331173015	Severe X-linked intellectual disability Gustavson type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3331175010	Severe X-linked intellectual disability Gustavson type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module