389158007: Thanatophoric dysplasia, type 2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\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\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Thanatophoric dysplasia\Thanatophoric dysplasia, type 2

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1463337016 Thanatophoric dysplasia, type 2 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1483210010 Thanatophoric dysplasia, type 2 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thanatophoric dysplasia, type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 2	Is a	Thanatophoric dysplasia	true	Inferred relationship	Existential restriction modifier
Thanatophoric dysplasia, type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Thanatophoric dysplasia, type 2	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 2	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Thanatophoric dysplasia, type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 2	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Thanatophoric dysplasia, type 2	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Thanatophoric dysplasia, type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Thanatophoric dysplasia, type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 2	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 2	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

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
1463337016	Thanatophoric dysplasia, type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1483210010	Thanatophoric dysplasia, type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module