732249002: Bone dysplasia lethal Holmgren type (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\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)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\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)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\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 of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\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\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\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 of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\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 of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\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\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (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 malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Bone dysplasia lethal Holmgren type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (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\Rhizomelic dysplasia (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)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (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

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

3464734017 Bone dysplasia lethal Holmgren type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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

5403619017 A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403620011 A rare lethal bone dysplasia characterised at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

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	Congenital dysplasia	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	Congenital dysplasia	false	Inferred relationship	Some	1
Bone dysplasia lethal Holmgren type (disorder)	Finding site	Bone structure	false	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
Bone dysplasia lethal Holmgren type (disorder)	Is a	Rhizomelic dysplasia (disorder)	true	Inferred relationship	Some
Bone dysplasia lethal Holmgren type (disorder)	Interprets	Limb length	true	Inferred relationship	Some	2
Bone dysplasia lethal Holmgren type (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Bone dysplasia lethal Holmgren type (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3464733011	Bone dysplasia lethal Holmgren type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3464734017	Bone dysplasia lethal Holmgren type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
5403619017	A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403620011	A rare lethal bone dysplasia characterised at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core