732249002: Bone dysplasia lethal Holmgren type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3464733011	Bone dysplasia lethal Holmgren type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3464734017	Bone dysplasia lethal Holmgren type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3464735016	Autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3464736015	A lethal bone dysplasia with characteristics of low birth weight, rhizomelic dwarfism, bent femora and short chest producing asphyxia. The disease has been described in three siblings from healthy, non-consanguineous parents of Finnish origin and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. There has been no further description of this disease in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3949211000052111	letal diastrofisk dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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