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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic syndrome Urbach type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703567013	Rhizomelic syndrome Urbach type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3703568015	Rhizomelic syndrome Urbach type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3703569011	A rare primary bone dysplasia characterised by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalisation of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	en	Definition	Active	Case sensitive	SNOMED CT core
3703570012	A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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