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718559000: Acromesomelic dysplasia Maroteaux type (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3312763019 Acromesomelic dysplasia Maroteaux type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acromesomelic dysplasia Maroteaux type Pathological process Pathological developmental process true Inferred relationship Some 1
Acromesomelic dysplasia Maroteaux type Associated morphology Dysplasia true Inferred relationship Some 1
Acromesomelic dysplasia Maroteaux type Is a Developmental hereditary disorder true Inferred relationship Some
Acromesomelic dysplasia Maroteaux type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acromesomelic dysplasia Maroteaux type Is a Acromesomelic dysplasia syndrome true Inferred relationship Some
Acromesomelic dysplasia Maroteaux type Is a Inherited disorder of connective tissue false Inferred relationship Some
Acromesomelic dysplasia Maroteaux type Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acromesomelic dysplasia Maroteaux type Associated morphology Congenital dysplasia false Inferred relationship Some 1
Acromesomelic dysplasia Maroteaux type Occurrence Congenital true Inferred relationship Some 1
Acromesomelic dysplasia Maroteaux 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

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