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719213009: Short stature Brussels type (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3315436013 Short stature Brussels type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315437016 Short stature Brussels type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315438014 Mievis Verellen Dumoulin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402013011 A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402014017 A rare primary bone dysplasia characterised by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. 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
Short stature Brussels type (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Short stature Brussels type (disorder) Is a Short stature disorder true Inferred relationship Some
Short stature Brussels type (disorder) Is a Disorganized development of cartilaginous and fibrous components of the skeleton true Inferred relationship Some
Short stature Brussels type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Short stature Brussels type (disorder) Occurrence Congenital true Inferred relationship Some 3
Short stature Brussels type (disorder) Finding site Face structure false Inferred relationship Some 3
Short stature Brussels type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 4
Short stature Brussels type (disorder) Occurrence Congenital false Inferred relationship Some 4
Short stature Brussels type (disorder) Finding site Bone structure false Inferred relationship Some 4
Short stature Brussels type (disorder) Occurrence Congenital true Inferred relationship Some 2
Short stature Brussels type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short stature Brussels type (disorder) Occurrence Congenital true Inferred relationship Some 1
Short stature Brussels type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short stature Brussels type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Short stature Brussels type (disorder) Finding site Face structure true Inferred relationship Some 1
Short stature Brussels type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Short stature Brussels type (disorder) Finding site Bone structure true Inferred relationship Some 2
Short stature Brussels type (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Short stature Brussels type (disorder) Finding site Cartilage structure (body structure) true Inferred relationship Some 3
Short stature Brussels type (disorder) Is a Osteochondropathy true Inferred relationship Some
Short stature Brussels type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Short stature Brussels type (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Short stature Brussels type (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Short stature Brussels type (disorder) Interprets Height / growth measure true Inferred relationship Some 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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