719471002: Cleidorhizomelic syndrome (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\Cleidorhizomelic syndrome

\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\Cleidorhizomelic syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cleidorhizomelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Cleidorhizomelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Cleidorhizomelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Cleidorhizomelic syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3316466014 Cleidorhizomelic syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3316467017 Cleidorhizomelic syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3316468010 Rhizomelic shortness with clavicular defect en Synonym Active Entire term case insensitive SNOMED CT core module

3316469019 Wallis Zieff Goldblatt syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cleidorhizomelic syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cleidorhizomelic syndrome	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier
Cleidorhizomelic syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Cleidorhizomelic syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Cleidorhizomelic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Cleidorhizomelic syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Cleidorhizomelic syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Cleidorhizomelic syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cleidorhizomelic syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Cleidorhizomelic syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Cleidorhizomelic syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cleidorhizomelic syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Cleidorhizomelic syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Cleidorhizomelic syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Cleidorhizomelic syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cleidorhizomelic syndrome	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
3316466014	Cleidorhizomelic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3316467017	Cleidorhizomelic syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316468010	Rhizomelic shortness with clavicular defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316469019	Wallis Zieff Goldblatt syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module