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59252009: syndroom van cutis laxa, corneatroebeling en verstandelijke beperking (aandoening)

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
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
6799471000146114 syndroom van De Barsy nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6799481000146111 De Barsy-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6799491000146113 progeroïde syndroom type De Barsy nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6799501000146115 syndroom van cutis laxa, corneatroebeling en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494801000146113 syndroom van cutis laxa, corneatroebeling en verstandelijke beperking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7586811000146111 syndroom van cutis laxa, corneatroebeling en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7586821000146118 syndroom van cutis laxa, corneatroebeling en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core 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

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
de Barsey syndrome Is a Congenital anomaly of head false Inferred relationship Some
de Barsey syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
de Barsey syndrome Is a mentale retardatie false Inferred relationship Some
de Barsey syndrome Is a Disorder of skin AND/OR subcutaneous tissue of head (disorder) false Inferred relationship Some
de Barsey syndrome Is a Cutis laxa false Inferred relationship Some
de Barsey syndrome Finding site Connective tissue structure false Inferred relationship Some 2
de Barsey syndrome Occurrence Congenital false Inferred relationship Some
de Barsey syndrome Finding site Connective tissue false Inferred relationship Some
de Barsey syndrome Finding site Skin structure false Inferred relationship Some 3
de Barsey syndrome Finding site Brain structure false Inferred relationship Some
de Barsey syndrome Is a Intellectual disability true Inferred relationship Some
de Barsey syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
de Barsey syndrome Is a Cutis laxa, autosomal recessive true Inferred relationship Some
de Barsey syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
de Barsey syndrome Is a Congenital corneal opacity true Inferred relationship Some
de Barsey syndrome Is a Developmental delay true Inferred relationship Some
de Barsey syndrome Is a Joint laxity true Inferred relationship Some
de Barsey syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
de Barsey syndrome Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
de Barsey syndrome Is a Congenital anomaly of face (disorder) false Inferred relationship Some
de Barsey syndrome Is a Arthropathy (disorder) true Inferred relationship Some
de Barsey syndrome Occurrence Congenital true Inferred relationship Some 1
de Barsey syndrome Finding site Corneal structure true Inferred relationship Some 1
de Barsey syndrome Associated morphology Opacity true Inferred relationship Some 1
de Barsey syndrome Finding site Face structure true Inferred relationship Some 2
de Barsey syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
de Barsey syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
de Barsey syndrome Occurrence Congenital true Inferred relationship Some 2
de Barsey syndrome Occurrence Congenital true Inferred relationship Some 3
de Barsey syndrome Finding site Connective tissue structure true Inferred relationship Some 3
de Barsey syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
de Barsey syndrome Occurrence Congenital true Inferred relationship Some 4
de Barsey syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
de Barsey syndrome Finding site Skin structure true Inferred relationship Some 4
de Barsey syndrome Finding site Joint structure true Inferred relationship Some 5
de Barsey syndrome Is a Athetoid movement true Inferred relationship Some
de Barsey syndrome Is a Hyperreflexia true Inferred relationship Some
de Barsey syndrome Interprets Reflex true Inferred relationship Some 6
de Barsey syndrome Has interpretation Abnormal true Inferred relationship Some 6
de Barsey syndrome Is a Disorder of proline AND/OR hydroxyproline metabolism true Inferred relationship Some
de Barsey syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 7
de Barsey syndrome Has interpretation Impaired true Inferred relationship Some 7
de Barsey syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 8
de Barsey syndrome Has interpretation Impaired true Inferred relationship Some 8
de Barsey syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
de Barsey syndrome Is a Disorder involving the integument of fetus OR newborn true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) Is a True de Barsey syndrome Inferred relationship Some
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Is a True de Barsey syndrome Inferred relationship Some

This concept is not in any reference sets

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