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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia A4 type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia A4 type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

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

3756667016 Spondylometaphyseal dysplasia A4 type en Synonym Active Only initial character case insensitive SNOMED CT core module

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	Existential restriction modifier
Spondylometaphyseal dysplasia A4 type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia A4 type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia A4 type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia A4 type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia A4 type	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia A4 type	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3756666013	Spondylometaphyseal dysplasia A4 type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3756667016	Spondylometaphyseal dysplasia A4 type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module