782912001: Spondylometaphyseal dysplasia A4 type (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756666013 Spondylometaphyseal dysplasia A4 type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3756667016 Spondylometaphyseal dysplasia A4 type en Synonym Active Initial character case insensitive SNOMED CT core

3756668014 A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylometaphyseal dysplasia A4 type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondylometaphyseal dysplasia A4 type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia A4 type	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia A4 type	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia A4 type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondylometaphyseal dysplasia A4 type	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Spondylometaphyseal dysplasia A4 type	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756666013	Spondylometaphyseal dysplasia A4 type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3756667016	Spondylometaphyseal dysplasia A4 type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3756668014	A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.	en	Definition	Active	Case sensitive	SNOMED CT core