732246009: X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

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

\Finding of limb structure\Disorder of extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

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

\Finding of brain\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of all four limbs (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Tetraparesis\Spastic quadriparesis (disorder)\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Metabolic disease\Metabolic disorder of transport\Diabetes insipidus\Familial diabetes insipidus\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Congenital disease (disorder)\Leber's amaurosis\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3464526014 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3464527017 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3901539010 A rare genetic neurometabolic disease with characteristics of severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter) described on magnetic resonance imaging have been reported. High prenatal alpha fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3949181000052110 syndrom med X-bunden intellektuell funktionsnedsättning, spasticitet i extremiteter, retinal dystrofi och diabetes insipidus 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, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	Familial diabetes insipidus	true	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	Leber's amaurosis	true	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	Spastic quadriparesis (disorder)	true	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	5
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Finding site	Neurohypophysis structure	true	Inferred relationship	Some	3
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	4
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	4
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus 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
3464526014	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3464527017	X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3901539010	A rare genetic neurometabolic disease with characteristics of severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter) described on magnetic resonance imaging have been reported. High prenatal alpha fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3949181000052110	syndrom med X-bunden intellektuell funktionsnedsättning, spasticitet i extremiteter, retinal dystrofi och diabetes insipidus	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)