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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
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
3315439018 This syndrome has characteristics of short stature presenting in the neonatal period, associated with osteochondrodysplastic lesions and facial dysmorphism. It has been described in two members from the same family. en Definition 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
3386311001000116 Kleinwuchs Typ Brüssel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944301000172115 petite taille type Bruxelles fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
990171000172112 syndrome de Mievis-Verellen-Dumoulin fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944301000172115 petite taille type Bruxelles fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
990171000172112 syndrome de Mievis-Verellen-Dumoulin fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386311001000116 Kleinwuchs Typ Brüssel 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
Short stature Brussels type Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature Brussels type Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature Brussels type Is a Disorganised development of cartilaginous and fibrous components of the skeleton true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature Brussels type Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature Brussels type Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature Brussels type Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature Brussels type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature Brussels type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature Brussels type Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature Brussels type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature Brussels type Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature Brussels type Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature Brussels type Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature Brussels type Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature Brussels type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature Brussels type Finding site Cartilage structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Is a Osteochondropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature Brussels type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature Brussels type Interprets Height / growth measure (observable entity) 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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