389157002: Thanatophoric dysplasia, type 1 (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1

\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 1

\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 1
\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 1
\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 1
\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 1
\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 1

\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 1
\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 1
\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 1
\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 1
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1
\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 1
\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 1
\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 1
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1
\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 1
\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 1
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1

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

1463336013 Thanatophoric dysplasia, type 1 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1483209017 Thanatophoric dysplasia, type 1 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 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 1	Is a	Thanatophoric dysplasia	true	Inferred relationship	Existential restriction modifier
Thanatophoric dysplasia, type 1	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Thanatophoric dysplasia, type 1	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 1	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Thanatophoric dysplasia, type 1	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 1	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Thanatophoric dysplasia, type 1	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Thanatophoric dysplasia, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Thanatophoric dysplasia, type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 1	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Thanatophoric dysplasia, type 1	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1463336013	Thanatophoric dysplasia, type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1483209017	Thanatophoric dysplasia, type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module