715652002: Mesomelic dysplasia Savarirayan type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\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

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

3871051000052110 mesomel dysplasi, Savarirayantyp sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mesomelic dysplasia Savarirayan type (disorder)	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Mesomelic dysplasia Savarirayan type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan type (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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
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
3871051000052110	mesomel dysplasi, Savarirayantyp	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)