715472000: Mesomelic dysplasia of hypoplastic ulna and fibula 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 of hypoplastic ulna and fibula 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 of hypoplastic ulna and fibula type (disorder)

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

\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)

\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)

\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula 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

3302744011 Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302745012 Mesomelic dysplasia of hypoplastic ulna and fibula type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302746013 Mesomelic dwarfism Reinhardt-Pfeiffer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302747016 Reinhardt Pfeiffer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302748014 Reinhardt Pfeiffer mesomelic dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302749018 Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3866681000052114 mesomelt dysplasisyndrom, Reinhardt Pfeiffer-typ 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 of hypoplastic ulna and fibula type (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula 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
3302744011	Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302745012	Mesomelic dysplasia of hypoplastic ulna and fibula type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302746013	Mesomelic dwarfism Reinhardt-Pfeiffer type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302747016	Reinhardt Pfeiffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302748014	Reinhardt Pfeiffer mesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302749018	Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3866681000052114	mesomelt dysplasisyndrom, Reinhardt Pfeiffer-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)