764460003: Spondyloepimetaphyseal dysplasia anauxetic 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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic 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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia anauxetic type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia anauxetic type

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3649937015 Anauxetic dysplasia en Synonym Active Case insensitive SNOMED CT core

3649939017 Spondyloepimetaphyseal dysplasia anauxetic type (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3649940015 Spondyloepimetaphyseal dysplasia Menger type en Synonym Active Initial character case insensitive SNOMED CT core

3654095015 Spondyloepimetaphyseal dysplasia anauxetic type en Synonym Active Case insensitive SNOMED CT core

3649941016 Syndrome with characteristics of extremely short stature and other skeletal abnormalities including kyphoscoliosis, hyperlordosis, hip dislocation, hypermobility, dental problems and distinctive facial features. Mild intellectual disability may also be present. The disorder can be caused by mutations in the RMRP gene. This condition is inherited in an autosomal recessive pattern. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal dysplasia anauxetic type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia anauxetic type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	Short stature disorder	false	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia anauxetic type	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia anauxetic type	Finding site	Bone structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3649937015	Anauxetic dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3649939017	Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3649940015	Spondyloepimetaphyseal dysplasia Menger type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3654095015	Spondyloepimetaphyseal dysplasia anauxetic type	en	Synonym	Active	Case insensitive	SNOMED CT core
3649941016	Syndrome with characteristics of extremely short stature and other skeletal abnormalities including kyphoscoliosis, hyperlordosis, hip dislocation, hypermobility, dental problems and distinctive facial features. Mild intellectual disability may also be present. The disorder can be caused by mutations in the RMRP gene. This condition is inherited in an autosomal recessive pattern.	en	Definition	Active	Case sensitive	SNOMED CT core