58561002: Diastrophic dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia

\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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\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 of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\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\Diastrophic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital 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\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Diastrophic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Diastrophic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

97316014 Diastrophic dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
97317017 Diastrophic nanism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
97318010 Diastrophic dwarf en Synonym Active Entire term case insensitive SNOMED CT core module
797307017 Diastrophic dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1231849012 DTD - Diastrophic dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module
1231850012 Diastrophic dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
1231851011 DD - Diastrophic dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module
1231852016 Diastrophic dwarfism en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diastrophic dysplasia	Is a	Dwarfism	false	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Is a	Atelosteogenesis	false	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Diastrophic dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Diastrophic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Is a	Short stature disorder	false	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Diastrophic dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Diastrophic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Diastrophic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Diastrophic dysplasia	Is a	Congenital malformation syndromes associated with short stature	false	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Associated morphology	Dislocation	false	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Finding site	Joint structure of multiple body sites	false	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3
Diastrophic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Is a	Micromelia	true	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Finding site	Entire limb	true	Inferred relationship	Existential restriction modifier	2
Diastrophic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diastrophic dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4

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
97316014	Diastrophic dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
97317017	Diastrophic nanism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
97318010	Diastrophic dwarf	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
797307017	Diastrophic dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1231849012	DTD - Diastrophic dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1231850012	Diastrophic dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1231851011	DD - Diastrophic dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1231852016	Diastrophic dwarfism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module