719204007: Spondyloepiphyseal dysplasia Maroteaux type (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux 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\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux 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\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Maroteaux type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3315408015 Spondyloepiphyseal dysplasia Maroteaux type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3315409011 Spondyloepiphyseal dysplasia Maroteaux type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3315411019 Pseudo-Morquio syndrome type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5402001018 Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402002013 Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterised clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Is a	Spondyloepiphyseal dysplasia congenita group (disorder)	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315408015	Spondyloepiphyseal dysplasia Maroteaux type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315409011	Spondyloepiphyseal dysplasia Maroteaux type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315411019	Pseudo-Morquio syndrome type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5402001018	Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402002013	Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterised clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core