59252009: de Barsey syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin (disorder)\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\de Barsey syndrome

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\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\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Lesion of cornea (disorder)\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Lesion of cornea (disorder)\Corneal opacity\Congenital corneal opacity\de Barsey syndrome
\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\de Barsey syndrome
\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\de Barsey syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Congenital corneal opacity\de Barsey syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\de Barsey syndrome

\Finding of coordination\Athetoid movement\de Barsey syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\de Barsey syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\de Barsey syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\de Barsey syndrome

\Musculoskeletal finding (finding)\Joint finding\Arthropathy\de Barsey syndrome
\Musculoskeletal finding (finding)\Joint finding\Joint laxity\de Barsey syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\de Barsey syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\de Barsey syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\de Barsey syndrome

\Neurological finding\Reflex finding\Abnormal reflex\Hyperreflexia\de Barsey syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
de Barsey syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Cutis laxa	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
de Barsey syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
de Barsey syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
de Barsey syndrome	Is a	Cutis laxa, autosomal recessive (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Congenital corneal opacity	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Joint laxity	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Arthropathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
de Barsey syndrome	Finding site	Corneal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
de Barsey syndrome	Associated morphology	Opacity	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
de Barsey syndrome	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
de Barsey syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
de Barsey syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
de Barsey syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
de Barsey syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
de Barsey syndrome	Finding site	Connective tissue structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
de Barsey syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
de Barsey syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
de Barsey syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
de Barsey syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
de Barsey syndrome	Finding site	Joint structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
de Barsey syndrome	Is a	Athetoid movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Hyperreflexia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Interprets	Reflex	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
de Barsey syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
de Barsey syndrome	Is a	Disorder of proline AND/OR hydroxyproline metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
de Barsey syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
de Barsey syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	8
de Barsey syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	8
de Barsey syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
de Barsey syndrome	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
ALDH18A1-related de Barsy syndrome	Is a	True	de Barsey syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome	Is a	True	de Barsey syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
98431015	Cutis laxa-corneal clouding-oligophrenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
98432010	de Barsey syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98433017	Progeroid syndrome of de Barsey	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
98435012	de Barsey-Moens-Dierckx syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283720019	Autosomal recessive cutis laxa type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5283721015	de Barsey syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4032946010	A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98431015	Cutis laxa-corneal clouding-oligophrenia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
98431015	Cutis laxa-corneal clouding-oligophrenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
98432010	de Barsey syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98433017	Progeroid syndrome of de Barsey	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
98435012	de Barsey-Moens-Dierckx syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98436013	Cutis laxa, corneal clouding AND mental retardation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
798074017	Cutis laxa-corneal clouding-oligophrenia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
798074017	Cutis laxa-corneal clouding-oligophrenia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283720019	Autosomal recessive cutis laxa type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5283721015	de Barsey syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4032946010	A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
645721000274115	Syndrom mit Cutis laxa, Hornhauttrübung und Intelligenzminderung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451091001000119	De Barsy-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4583871000241116	cutis laxa, opacité de la cornée et arriération mentale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4583871000241116	cutis laxa, opacité de la cornée et arriération mentale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
645721000274115	Syndrom mit Cutis laxa, Hornhauttrübung und Intelligenzminderung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451091001000119	De Barsy-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module