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715652002: Mesomelic dysplasia Savarirayan type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303299010 Mesomelic dysplasia Savarirayan type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303300019 Mesomelic dysplasia Savarirayan type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303301015 Mesomelic dysplasia with absent fibula and triangular tibia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401010012 Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401011011 Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303299010 Mesomelic dysplasia Savarirayan type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303300019 Mesomelic dysplasia Savarirayan type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303301015 Mesomelic dysplasia with absent fibula and triangular tibia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303301015 Mesomelic dysplasia with absent fibula and triangular tibia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303302010 Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401010012 Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401011011 Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447741001000118 Dysplasie, mesomele, Typ Savarirayan de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877701000172115 dysplasie mésomélique avec absence de fibula et tibias triangulaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
927231000172114 dysplasie mésomélique type Savarirayan fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877701000172115 dysplasie mésomélique avec absence de fibula et tibias triangulaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
927231000172114 dysplasie mésomélique type Savarirayan fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447741001000118 Dysplasie, mesomele, Typ Savarirayan 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
Mesomelic dysplasia Savarirayan type (disorder) Is a Mesomelic dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Savarirayan type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Savarirayan type (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Savarirayan type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Clinical course Progressive false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Savarirayan type (disorder) Interprets Height / growth measure (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Savarirayan type (disorder) Is a Agenesis of fibula (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder) Is a Mesomelic dysplasia of upper limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder) Is a Congenital hypoplasia of tibia true Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder) Interprets Length of radius true Inferred relationship Existential restriction modifier (core metadata concept) 5
Mesomelic dysplasia Savarirayan type (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 5
Mesomelic dysplasia Savarirayan type (disorder) Interprets Length of ulna true Inferred relationship Existential restriction modifier (core metadata concept) 6
Mesomelic dysplasia Savarirayan type (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 6
Mesomelic dysplasia Savarirayan type (disorder) Finding site Bone structure of radius true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Savarirayan type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Savarirayan type (disorder) Finding site Bone structure of ulna true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Savarirayan type (disorder) Finding site Bone structure of tibia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Savarirayan type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Savarirayan type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Mesomelic dysplasia Savarirayan type (disorder) Finding site Entire fibula true Inferred relationship Existential restriction modifier (core metadata concept) 4
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Mesomelic dysplasia Savarirayan type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) 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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