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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
2383331000005112 Atelosteogenese da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


3 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Boomerang dysplasia Is a False Atelosteogenesis Inferred relationship Some
Atelosteogenesis type 2 Is a True Atelosteogenesis Inferred relationship Some
Omodysplasi I Is a False Atelosteogenesis Inferred relationship Some
Omodysplasi II Is a False Atelosteogenesis Inferred relationship Some
Pseudodiastrophic dysplasia Is a False Atelosteogenesis Inferred relationship Some
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of 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. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. Is a False Atelosteogenesis Inferred relationship Some
Diastrophic dysplasia Is a False Atelosteogenesis Inferred relationship Some
Atelosteogenese/diastrofisk dysplasi Is a False Atelosteogenesis 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 Inferred relationship Some
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. Is a True Atelosteogenesis Inferred relationship Some

This concept is not in any reference sets

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