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59252009: Cutis laxa-corneal clouding-oligophrenia syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1720091000168111 Cutis laxa, corneal clouding and intellectual disability en Synonym Active Case insensitive SNOMED Clinical Terms Australian extension
798074017 Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
98431015 Cutis laxa-corneal clouding-oligophrenia syndrome en Synonym Active Case insensitive SNOMED CT core
98432010 de Barsey syndrome en Synonym Active Case sensitive SNOMED CT core
98433017 Progeroid syndrome of de Barsey en Synonym Active Initial character case insensitive SNOMED CT core
98435012 de Barsey-Moens-Dierckx syndrome en Synonym Active Case sensitive SNOMED CT core
98436013 Cutis laxa, corneal clouding AND mental retardation en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cutis laxa-corneal clouding-oligophrenia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Cutis laxa, autosomal recessive true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Congenital corneal opacity true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Developmental delay true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Joint laxity true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Musculoskeletal and connective tissue disorder true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Congenital anomaly of face true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Arthropathy true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Occurrence Congenital true Inferred relationship Some 1
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Corneal structure true Inferred relationship Some 1
Cutis laxa-corneal clouding-oligophrenia syndrome Associated morphology Abnormally opaque structure true Inferred relationship Some 1
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Face structure true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome Occurrence Congenital true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome Occurrence Congenital true Inferred relationship Some 3
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Connective tissue structure true Inferred relationship Some 3
Cutis laxa-corneal clouding-oligophrenia syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Cutis laxa-corneal clouding-oligophrenia syndrome Occurrence Congenital true Inferred relationship Some 4
Cutis laxa-corneal clouding-oligophrenia syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Skin structure true Inferred relationship Some 4
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Joint structure true Inferred relationship Some 5
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Athetoid movement true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Hyperreflexia true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Interprets Reflex true Inferred relationship Some 6
Cutis laxa-corneal clouding-oligophrenia syndrome Has interpretation Abnormal true Inferred relationship Some 6
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Disorder of proline AND/OR hydroxyproline metabolism true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Interprets Intellectual ability true Inferred relationship Some 7
Cutis laxa-corneal clouding-oligophrenia syndrome Has interpretation Impaired true Inferred relationship Some 7
Cutis laxa-corneal clouding-oligophrenia syndrome Interprets Adaptation behaviour true Inferred relationship Some 8
Cutis laxa-corneal clouding-oligophrenia syndrome Has interpretation Impaired true Inferred relationship Some 8
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Congenital anomaly of head false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Intellectual disability false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Disorder of skin AND/OR subcutaneous tissue of head false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Cutis laxa false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Connective tissue structure false Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome Occurrence Congenital false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Connective tissue false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Skin structure false Inferred relationship Some 3
Cutis laxa-corneal clouding-oligophrenia syndrome Finding site Brain structure false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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