FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

59252009: de Barsey 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
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
98434011 Cutis laxa, corneal clouding and mental retardation en Synonym (core metadata concept) Inactive 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) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
798074017 Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) en Fully specified name Inactive 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5454063011 De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), 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
5454064017 De Barsy syndrome (DBS) is characterised by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), 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 Mental retardation 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 false 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 false 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 Fetal and/or neonatal disorder of integument true Inferred relationship Some
de Barsey syndrome Is a Genetic intellectual disability true Inferred relationship Some
de Barsey syndrome Is a Neurodevelopmental delay (disorder) 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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start