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43814000: Atelosteogenesis (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
73066015 Atelosteogenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
780871014 Atelosteogenesis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4532651000241111 atélostéogénèse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atelosteogenesis (disorder) Is a Osteochondrodysplasia syndrome true Inferred relationship Some
Atelosteogenesis (disorder) Is a Congenital skeletal dysplasia (disorder) false Inferred relationship Some
Atelosteogenesis (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Atelosteogenesis (disorder) Occurrence Congenital false Inferred relationship Some
Atelosteogenesis (disorder) Finding site Bone structure false Inferred relationship Some 1
Atelosteogenesis (disorder) Finding site Skeletal system structure true Inferred relationship Some 1
Atelosteogenesis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Atelosteogenesis (disorder) Associated morphology Congenital malformation false Inferred relationship Some
Atelosteogenesis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Atelosteogenesis (disorder) Finding site Bone structure false Inferred relationship Some 1
Atelosteogenesis (disorder) Occurrence Congenital false Inferred relationship Some 2
Atelosteogenesis (disorder) Finding site Bone structure false Inferred relationship Some 2
Atelosteogenesis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Atelosteogenesis (disorder) Is a Autosomal dominant hereditary disorder (disorder) false Inferred relationship Some
Atelosteogenesis (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Some
Atelosteogenesis (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Atelosteogenesis (disorder) Occurrence Congenital true Inferred relationship Some 1
Atelosteogenesis (disorder) Is a Multiple dislocations with dysplasia true Inferred relationship Some
Atelosteogenesis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Atelosteogenesis (disorder) Associated morphology Dislocation true Inferred relationship Some 2
Atelosteogenesis (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 2
Atelosteogenesis (disorder) Clinical course Progressive true Inferred relationship Some 3
Atelosteogenesis (disorder) Due to Spontaneous event (event) true Inferred relationship Some 4
Atelosteogenesis (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Atelosteogenesis (disorder) Associated morphology Damage false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group
Boomerang dysplasia Is a False Atelosteogenesis (disorder) Inferred relationship Some
Atelosteogenesis type 2 Is a True Atelosteogenesis (disorder) Inferred relationship Some
Omodysplasia I Is a False Atelosteogenesis (disorder) Inferred relationship Some
Omodysplasia II Is a False Atelosteogenesis (disorder) Inferred relationship Some
Pseudodiastrophic dysplasia Is a False Atelosteogenesis (disorder) Inferred relationship Some
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Is a False Atelosteogenesis (disorder) Inferred relationship Some
Diastrophic dysplasia Is a False Atelosteogenesis (disorder) Inferred relationship Some
Atelosteogenesis/diastrophic dysplasia Is a False Atelosteogenesis (disorder) Inferred relationship Some
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Is a True Atelosteogenesis (disorder) Inferred relationship Some
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. Is a True Atelosteogenesis (disorder) Inferred relationship Some

This concept is not in any reference sets

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