722213009: ernstige X-gebonden verstandelijke beperking type Gustavson (aandoening)

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

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Severe X-linked intellectual disability Gustavson type (disorder)

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Severe X-linked intellectual disability Gustavson type (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\...

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

6743561000146112 ernstige X-gebonden mentale retardatie type Gustavson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7494681000146117 ernstige X-gebonden verstandelijke beperking type Gustavson (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7563221000146114 ernstige X-gebonden verstandelijke handicap type Gustavson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7563231000146111 ernstige X-gebonden verstandelijke beperking type Gustavson nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5277857013 This syndrome has characteristics of X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in early childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	microcefalie	false	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	4
Severe X-linked intellectual disability Gustavson type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Severe X-linked intellectual disability Gustavson type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	6
Severe X-linked intellectual disability Gustavson type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	Atrophy	false	Inferred relationship	Some	5
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Optic nerve structure	false	Inferred relationship	Some	5
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Congenital atrophy of optic nerve (disorder)	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	4
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	4
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	3
Severe X-linked intellectual disability Gustavson type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe X-linked intellectual disability Gustavson type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	3
Severe X-linked intellectual disability Gustavson type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Severe X-linked intellectual disability Gustavson type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Congenital anomaly of optic nerve	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Severe X-linked intellectual disability Gustavson type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	4
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Interprets	Hearing	false	Inferred relationship	Some	5
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Severe X-linked intellectual disability Gustavson type (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Severe X-linked intellectual disability Gustavson type (disorder)	Finding site	Head structure	true	Inferred relationship	Some	2
Severe X-linked intellectual disability Gustavson type (disorder)	Interprets	Hearing	true	Inferred relationship	Some	6
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Severe X-linked intellectual disability Gustavson type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	7
Severe X-linked intellectual disability Gustavson type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7
Severe X-linked intellectual disability Gustavson type (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	8
Severe X-linked intellectual disability Gustavson type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	8
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Congenital hearing loss (disorder)	true	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	Disorder of sensory function (disorder)	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
3331173015	Severe X-linked intellectual disability Gustavson type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331175010	Severe X-linked intellectual disability Gustavson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6743561000146112	ernstige X-gebonden mentale retardatie type Gustavson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494681000146117	ernstige X-gebonden verstandelijke beperking type Gustavson (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7563221000146114	ernstige X-gebonden verstandelijke handicap type Gustavson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7563231000146111	ernstige X-gebonden verstandelijke beperking type Gustavson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5277857013	This syndrome has characteristics of X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in early childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core