717221005: Metaphyseal dysplasia Braun Tinschert type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal dysplasia Braun Tinschert type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Metaphyseal dysplasia Braun Tinschert type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal dysplasia Braun Tinschert type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308711010 Metaphyseal dysplasia Braun Tinschert type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308712015 Metaphyseal dysplasia Braun Tinschert type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3313031010 Characterized by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3313032015 Characterised by metaphyseal undermodelling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

935461000172113 dysplasie métaphysaire type Braun-Tinschert fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

996711000172117 metafysaire dysplasie, Braun-Tinschert-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal dysplasia Braun Tinschert type (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Metaphyseal dysplasia Braun Tinschert type (disorder)	Is a	Dysplasia with increased bone density (disorder)	true	Inferred relationship	Some
Metaphyseal dysplasia Braun Tinschert type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Metaphyseal dysplasia Braun Tinschert type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Metaphyseal dysplasia Braun Tinschert type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Metaphyseal dysplasia Braun Tinschert type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Metaphyseal dysplasia Braun Tinschert type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Metaphyseal dysplasia Braun Tinschert type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Metaphyseal dysplasia Braun Tinschert type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Metaphyseal dysplasia Braun Tinschert type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal dysplasia Braun Tinschert type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Metaphyseal dysplasia Braun Tinschert type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Metaphyseal dysplasia Braun Tinschert type (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	2
Metaphyseal dysplasia Braun Tinschert type (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Metaphyseal dysplasia Braun Tinschert type (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Metaphyseal dysplasia Braun Tinschert type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3308711010	Metaphyseal dysplasia Braun Tinschert type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308712015	Metaphyseal dysplasia Braun Tinschert type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313031010	Characterized by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313032015	Characterised by metaphyseal undermodelling with broadening of the long bones and femora with an 'Erlenmeyer flask' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
935461000172113	dysplasie métaphysaire type Braun-Tinschert	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
996711000172117	metafysaire dysplasie, Braun-Tinschert-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)