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

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia

\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\Reinhardt Pfeiffer mesomelic dysplasia

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Reinhardt Pfeiffer mesomelic dysplasia

\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia

\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia

\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3302745012 Mesomelic dysplasia of hypoplastic ulna and fibula type en Synonym Active Case insensitive SNOMED CT core

3302746013 Mesomelic dwarfism Reinhardt-Pfeiffer type en Synonym Active Initial character case insensitive SNOMED CT core

3302747016 Reinhardt Pfeiffer syndrome en Synonym Active Case sensitive SNOMED CT core

3302748014 Reinhardt Pfeiffer mesomelic dysplasia en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Reinhardt Pfeiffer mesomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Reinhardt Pfeiffer mesomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Reinhardt Pfeiffer mesomelic dysplasia	Clinical course	Progressive	true	Inferred relationship	Some	2
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Reinhardt Pfeiffer mesomelic dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Reinhardt Pfeiffer mesomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Unit of use quantity 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	Case insensitive	SNOMED CT core
3302745012	Mesomelic dysplasia of hypoplastic ulna and fibula type	en	Synonym	Active	Case insensitive	SNOMED CT core
3302746013	Mesomelic dwarfism Reinhardt-Pfeiffer type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3302747016	Reinhardt Pfeiffer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302748014	Reinhardt Pfeiffer mesomelic dysplasia	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core