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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 Reference Sets
3498622019 Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3498623012 Dysmorphism, pectus carinatum, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3498624018 Guízar Vázquez Sánchez Manzano syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation 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 GB English: Preferred (foundation metadata concept)
3956921000052117 syndrom med dysmorfism, kölbröst och ledslapphet 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
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 Congenital deformity (morphologic abnormality) false Inferred relationship Some 6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Developmental anomaly (morphologic abnormality) 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 Congenital deformity (morphologic abnormality) 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 true 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 true Inferred relationship Some 3
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Deformity true Inferred relationship Some 4
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology Deformity true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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