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\Mesomelic dysplasia of hypoplastic ulna and fibula type

\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

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

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

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

\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type

\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of hypoplastic ulna and fibula type

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

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

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 SNOMED CT core module

3302745012 Mesomelic dysplasia of hypoplastic ulna and fibula type en Synonym Active Entire term case insensitive SNOMED CT core module

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

3302747016 Reinhardt Pfeiffer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3302748014 Reinhardt Pfeiffer mesomelic dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mesomelic dysplasia of hypoplastic ulna and fibula type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mesomelic dysplasia of hypoplastic ulna and fibula type	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier
Mesomelic dysplasia of hypoplastic ulna and fibula type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Mesomelic dysplasia of hypoplastic ulna and fibula type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Mesomelic dysplasia of hypoplastic ulna and fibula type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Mesomelic dysplasia of hypoplastic ulna and fibula type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Mesomelic dysplasia of hypoplastic ulna and fibula type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Mesomelic dysplasia of hypoplastic ulna and fibula type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Mesomelic dysplasia of hypoplastic ulna and fibula type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Mesomelic dysplasia of hypoplastic ulna and fibula type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Mesomelic dysplasia of hypoplastic ulna and fibula type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Mesomelic dysplasia of hypoplastic ulna and fibula type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Mesomelic dysplasia of hypoplastic ulna and fibula type	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	1
Mesomelic dysplasia of hypoplastic ulna and fibula type	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Mesomelic dysplasia of hypoplastic ulna and fibula type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Mesomelic dysplasia of hypoplastic ulna and fibula type	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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	SNOMED CT core module
3302745012	Mesomelic dysplasia of hypoplastic ulna and fibula type	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302746013	Mesomelic dwarfism Reinhardt-Pfeiffer type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3302747016	Reinhardt Pfeiffer syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3302748014	Reinhardt Pfeiffer mesomelic dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module