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733038005: Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498622019 Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498623012 Dysmorphism, pectus carinatum, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498624018 Guízar Vázquez Sánchez Manzano syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403687011 Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403688018 Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498622019 Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498623012 Dysmorphism, pectus carinatum, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498624018 Guízar Vázquez Sánchez Manzano syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499943013 Syndrome with characteristics of joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403687011 Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403688018 Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447131001000112 Dysmorphien-Pectus carinatum-schlaffe Gelenke-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6086081000241113 syndrome de Guízar Vázquez Sánchez Manzano fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6086091000241110 syndrome de dysmorphie, pectus carinatum et laxité ligamentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6086081000241113 syndrome de Guízar Vázquez Sánchez Manzano fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6086091000241110 syndrome de dysmorphie, pectus carinatum et laxité ligamentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447131001000112 Dysmorphien-Pectus carinatum-schlaffe Gelenke-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Is a thorax en carène true Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Is a Joint laxity true Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Is a Arthropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Interprets Joint movement (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of sternum false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Joint structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of sternum false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Deformity (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Deformity (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Protrusion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of sternum true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Abnormal curvature (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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