58561002: Diastrophic dysplasia (disorder)

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

\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Diastrophic dysplasia
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Diastrophic dysplasia

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Diastrophic dysplasia

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Diastrophic dysplasia
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Diastrophic dysplasia

\Finding of general physiological development\Disorder of stature\Short stature disorder\Diastrophic dysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Diastrophic dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Diastrophic dysplasia
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Diastrophic dysplasia
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Diastrophic dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Diastrophic dysplasia
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Diastrophic dysplasia
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Diastrophic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Diastrophic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diastrophic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Micromelia\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\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Diastrophic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Diastrophic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Diastrophic dysplasia
\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\Diastrophic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal 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 limb (disorder)\Congenital anomaly of limb\Micromelia\Diastrophic dysplasia
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\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)\Multiple system malformation syndrome\Diastrophic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal 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\Diastrophic dysplasia

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diastrophic dysplasia	Is a	Dwarfism	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	Congenital dysplasia	false	Inferred relationship	Some	2
Diastrophic dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Diastrophic dysplasia	Is a	Short stature disorder	true	Inferred relationship	Some
Diastrophic dysplasia	Associated morphology	Congenital dysplasia	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	Congenital dysplasia	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)	false	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	false	Inferred relationship	Some	2
Diastrophic dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Diastrophic dysplasia	Is a	Mesomelic dysplasia	false	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	false	Inferred relationship	Some	4
Diastrophic dysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Diastrophic dysplasia	Is a	Contracture of multiple joints	true	Inferred relationship	Some
Diastrophic dysplasia	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Diastrophic dysplasia	Interprets	Range of joint movement	true	Inferred relationship	Some	4
Diastrophic dysplasia	Has interpretation	Decreased	true	Inferred relationship	Some	4
Diastrophic dysplasia	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	5
Diastrophic dysplasia	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Diastrophic dysplasia	Finding site	Structure of joint region	false	Inferred relationship	Some	3
Diastrophic dysplasia	Associated morphology	Contracture	true	Inferred relationship	Some	3
Diastrophic dysplasia	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2
Diastrophic dysplasia	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	3

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