732249002: Bone dysplasia lethal Holmgren type (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Bone dysplasia lethal Holmgren type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Bone dysplasia lethal Holmgren type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Bone dysplasia lethal Holmgren type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Bone dysplasia lethal Holmgren 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\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Disease\Developmental disorder\Developmental hereditary disorder\Bone dysplasia lethal Holmgren type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Bone dysplasia lethal Holmgren type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Bone dysplasia lethal Holmgren type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3464733011 Bone dysplasia lethal Holmgren type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3464734017 Bone dysplasia lethal Holmgren type en Synonym Active Only initial character case insensitive SNOMED CT core module

3464735016 Autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bone dysplasia lethal Holmgren type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Bone dysplasia lethal Holmgren type	Is a	Chondrodysplasia	true	Inferred relationship	Existential restriction modifier
Bone dysplasia lethal Holmgren type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Bone dysplasia lethal Holmgren type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Bone dysplasia lethal Holmgren type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Bone dysplasia lethal Holmgren type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Bone dysplasia lethal Holmgren type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Bone dysplasia lethal Holmgren type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Bone dysplasia lethal Holmgren type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Bone dysplasia lethal Holmgren type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Bone dysplasia lethal Holmgren type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Bone dysplasia lethal Holmgren type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Bone dysplasia lethal Holmgren type	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

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Id	Description	Lang	Type	Status	Case?	Module
3464733011	Bone dysplasia lethal Holmgren type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3464734017	Bone dysplasia lethal Holmgren type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3464735016	Autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module