770948004: Rhizomelic syndrome Urbach 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\Rhizomelic syndrome Urbach 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\Rhizomelic syndrome Urbach type

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3703567013 Rhizomelic syndrome Urbach type en Synonym Active Only initial character case insensitive SNOMED CT core module

3703568015 Rhizomelic syndrome Urbach type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rhizomelic syndrome Urbach type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Rhizomelic syndrome Urbach type	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier
Rhizomelic syndrome Urbach type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic syndrome Urbach type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Rhizomelic syndrome Urbach type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic syndrome Urbach type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Rhizomelic syndrome Urbach type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic syndrome Urbach type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Rhizomelic syndrome Urbach type	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Rhizomelic syndrome Urbach type	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Rhizomelic syndrome Urbach type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Rhizomelic syndrome Urbach 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

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Id	Description	Lang	Type	Status	Case?	Module
3703567013	Rhizomelic syndrome Urbach type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3703568015	Rhizomelic syndrome Urbach type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module