789777007: Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short-limb skeletal dysplasia with severe combined immunodeficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe combined immunodeficiency disease\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with low T- and B-cell numbers\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Short-limb skeletal dysplasia with severe combined immunodeficiency
\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\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive severe combined immunodeficiency disease\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short-limb skeletal dysplasia with severe combined immunodeficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short-limb skeletal dysplasia with severe combined immunodeficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2020. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3793557016 Immunodeficiency, short limb dwarfism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3793558014 Achondroplasia-Swiss type agammaglobulinemia syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3793559018 Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3793560011 Achondroplasia-Swiss type agammaglobulinaemia syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3793561010 Short-limb skeletal dysplasia with severe combined immunodeficiency en Synonym Active Entire term case insensitive SNOMED CT core module

3793562015 Achondroplasia, severe combined immunodeficiency syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short-limb skeletal dysplasia with severe combined immunodeficiency	Finding site	Structure of epiphysis	false	Inferred relationship	Existential restriction modifier	3
Short-limb skeletal dysplasia with severe combined immunodeficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Short-limb skeletal dysplasia with severe combined immunodeficiency	Finding site	Structure of immune system	true	Inferred relationship	Existential restriction modifier	4
Short-limb skeletal dysplasia with severe combined immunodeficiency	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	2
Short-limb skeletal dysplasia with severe combined immunodeficiency	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Short-limb skeletal dysplasia with severe combined immunodeficiency	Associated morphology	Hypoplasia	false	Inferred relationship	Existential restriction modifier	2
Short-limb skeletal dysplasia with severe combined immunodeficiency	Associated morphology	Growth alteration	false	Inferred relationship	Existential restriction modifier	3
Short-limb skeletal dysplasia with severe combined immunodeficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	4
Short-limb skeletal dysplasia with severe combined immunodeficiency	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Short-limb skeletal dysplasia with severe combined immunodeficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Short-limb skeletal dysplasia with severe combined immunodeficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Short-limb skeletal dysplasia with severe combined immunodeficiency	Is a	Autosomal recessive severe combined immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Short-limb skeletal dysplasia with severe combined immunodeficiency	Is a	Severe combined immunodeficiency with low T- and B-cell numbers	true	Inferred relationship	Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Short-limb skeletal dysplasia with severe combined immunodeficiency	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	3
Short-limb skeletal dysplasia with severe combined immunodeficiency	Is a	Achondroplasia	false	Inferred relationship	Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Short-limb skeletal dysplasia with severe combined immunodeficiency	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Short-limb skeletal dysplasia with severe combined immunodeficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Short-limb skeletal dysplasia with severe combined immunodeficiency	Finding site	Structure of metaphysis	true	Inferred relationship	Existential restriction modifier	2
Short-limb skeletal dysplasia with severe combined immunodeficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3793557016	Immunodeficiency, short limb dwarfism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3793558014	Achondroplasia-Swiss type agammaglobulinemia syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3793559018	Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3793560011	Achondroplasia-Swiss type agammaglobulinaemia syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3793561010	Short-limb skeletal dysplasia with severe combined immunodeficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3793562015	Achondroplasia, severe combined immunodeficiency syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module