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733038005: syndroom van dysmorfie, pectus carinatum en gewrichtslaxiteit (aandoening)


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
6748541000146116 syndroom van dysmorfie, pectus carinatum en gewrichtslaxiteit (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748551000146118 syndroom van dysmorfie, pectus carinatum en gewrichtslaxiteit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8275881000146115 Guízar-Vázquez-Sánchez-Manzano-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8275891000146118 syndroom van Guízar-Vázquez-Sánchez-Manzano nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Some
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Is a Congenital pectus carinatum true Inferred relationship Some
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Is a Joint laxity true Inferred relationship Some
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Is a Arthropathy (disorder) true Inferred relationship Some
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Interprets Joint movement false Inferred relationship Some 5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology congenitale deformiteit (afwijkende morfologie) false Inferred relationship Some 6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 7
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Face structure false Inferred relationship Some 7
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Joint structure false Inferred relationship Some 8
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of rib false Inferred relationship Some 6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology congenitale deformiteit (afwijkende morfologie) false Inferred relationship Some 5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of sternum false Inferred relationship Some 5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Joint structure true Inferred relationship Some 2
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of sternum false Inferred relationship Some 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of rib false Inferred relationship Some 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Deformity false Inferred relationship Some 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Deformity false Inferred relationship Some 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Protrusion deformity (morphologic abnormality) true Inferred relationship Some 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of sternum true Inferred relationship Some 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Finding site Bone structure of rib true Inferred relationship Some 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Abnormal curvature true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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