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

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

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
98431015 Cutis laxa-corneal clouding-oligophrenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
98432010 de Barsey syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
98433017 Progeroid syndrome of de Barsey en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
98435012 de Barsey-Moens-Dierckx syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Acceptable (foundation metadata concept)
798074017 Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
295431000052118 cutis laxa-hornhinnegrumling-oligofreni-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 mental retardation false Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Disorder of skin AND/OR subcutaneous tissue of head (disorder) 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
Cutis laxa-corneal clouding-oligophrenia syndrome Pathological process (attribute) 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 (disorder) 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 (disorder) true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Congenital anomaly of face (disorder) true Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a Arthropathy (disorder) 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 Opacity 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 (attribute) Pathological developmental process true Inferred relationship Some 2
Cutis laxa-corneal clouding-oligophrenia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) 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 (attribute) 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 (attribute) 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
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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