58561002: Diastrophic dysplasia (disorder)

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

\Clinical history and observation findings\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia
\Clinical history and observation findings\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia

\Finding by site\Finding of body region\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Diastrophic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\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\Diastrophic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\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\Diastrophic dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of extremity (disorder)\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Diastrophic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\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\Diastrophic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diastrophic dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diastrophic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\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\Diastrophic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Disease\Disorder by body site (disorder)\Disorder of extremity (disorder)\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Diastrophic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
97316014	Diastrophic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
97317017	Diastrophic nanism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
97318010	Diastrophic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
797307017	Diastrophic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1231849012	DTD - Diastrophic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1231850012	Diastrophic dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1231851011	DD - Diastrophic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1231852016	Diastrophic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1110901000052114	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
Diastrophic dysplasia	Is a	äkta dvärgväxt	false	Inferred relationship	Some
Diastrophic dysplasia	Is a	Atelosteogenesis	false	Inferred relationship	Some
Diastrophic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Diastrophic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Diastrophic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Diastrophic dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Diastrophic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Diastrophic dysplasia	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Diastrophic dysplasia	Is a	Short stature disorder	false	Inferred relationship	Some
Diastrophic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Diastrophic dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Diastrophic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Diastrophic dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Diastrophic dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Diastrophic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Diastrophic dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Diastrophic dysplasia	Is a	Congenital malformation syndromes associated with short stature	false	Inferred relationship	Some
Diastrophic dysplasia	Associated morphology	Dislocation	false	Inferred relationship	Some	2
Diastrophic dysplasia	Finding site	Joint structure of multiple body sites (body structure)	false	Inferred relationship	Some	2
Diastrophic dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Diastrophic dysplasia	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Diastrophic dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Diastrophic dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Diastrophic dysplasia	Is a	Micromelia	true	Inferred relationship	Some
Diastrophic dysplasia	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Diastrophic dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Diastrophic dysplasia	Is a	Mesomelic dysplasia	true	Inferred relationship	Some
Diastrophic dysplasia	Finding site	Entire limb	true	Inferred relationship	Some	2
Diastrophic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Diastrophic dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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