770948004: Rhizomelic syndrome Urbach type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Rhizomelic syndrome Urbach type
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Rhizomelic syndrome Urbach type
• \Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Rhizomelic syndrome Urbach type
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Rhizomelic syndrome Urbach type
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Rhizomelic syndrome Urbach type
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Rhizomelic syndrome Urbach type

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703567013	Rhizomelic syndrome Urbach type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703568015	Rhizomelic syndrome Urbach type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404982011	Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404983018	Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterised by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalisation of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703567013	Rhizomelic syndrome Urbach type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703568015	Rhizomelic syndrome Urbach type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404982011	Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404983018	Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterised by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalisation of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442621001000115	Rhizomeles Syndrom Typ Urbach	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
941221000172115	syndrome rhizomélique type Urbach	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
941221000172115	syndrome rhizomélique type Urbach	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442621001000115	Rhizomeles Syndrom Typ Urbach	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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