718559000: Acromesomelic 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\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acromesomelic dysplasia Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Acromesomelic 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\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Acromesomelic 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\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Acromesomelic dysplasia Maroteaux type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Acromesomelic 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

3312762012 Acromesomelic dysplasia Maroteaux type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3312763019 Acromesomelic dysplasia Maroteaux type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3312764013 An autosomal recessively inherited form of acromesomelic dysplasia with characteristics of severe dwarfism (adult height less than 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening) and with normal facial appearance and intelligence. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3894661000052113 akromesomel dysplasi, Maroteaux-typ sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acromesomelic dysplasia Maroteaux type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Acromesomelic dysplasia Maroteaux type (disorder)	Is a	Acromesomelic dysplasia syndrome	true	Inferred relationship	Some
Acromesomelic dysplasia Maroteaux type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Acromesomelic dysplasia Maroteaux type (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Acromesomelic dysplasia Maroteaux type (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Acromesomelic dysplasia Maroteaux type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Acromesomelic dysplasia Maroteaux type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Acromesomelic dysplasia Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Acromesomelic dysplasia Maroteaux type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Acromesomelic dysplasia Maroteaux 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
3312762012	Acromesomelic dysplasia Maroteaux type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3312763019	Acromesomelic dysplasia Maroteaux type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3312764013	An autosomal recessively inherited form of acromesomelic dysplasia with characteristics of severe dwarfism (adult height less than 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening) and with normal facial appearance and intelligence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3894661000052113	akromesomel dysplasi, Maroteaux-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)