29352008: Thanatophoric dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1226349010 Thanatophoric dwarfism en Synonym Active Case insensitive SNOMED CT core
1226350010 TD - Thanatophoric dwarfism en Synonym Active Case sensitive SNOMED CT core
3036339019 Thanatophoric short stature en Synonym Active Case insensitive SNOMED CT core
49116010 Thanatophoric dysplasia en Synonym Active Case insensitive SNOMED CT core
49117018 Thanatophoric dwarfism syndrome en Synonym Active Case insensitive SNOMED CT core
49118011 Thanatophoric dwarf en Synonym Active Case insensitive SNOMED CT core
760237016 Thanatophoric dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thanatophoric dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Thanatophoric dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Thanatophoric dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Thanatophoric dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Thanatophoric dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Thanatophoric dysplasia	Is a	Defects of the tubular (and flat) bones and/or axial skeleton	true	Inferred relationship	Some
Thanatophoric dysplasia	Is a	True dwarfism	false	Inferred relationship	Some
Thanatophoric dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Thanatophoric dysplasia	Is a	Short stature disorder	true	Inferred relationship	Some
Thanatophoric dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Thanatophoric dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Thanatophoric dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Thanatophoric dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Thanatophoric dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Thanatophoric dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Thanatophoric dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Thanatophoric dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Thanatophoric dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Thanatophoric dysplasia, type 1	Is a	True	Thanatophoric dysplasia	Inferred relationship	Some
Thanatophoric dysplasia, type 2	Is a	True	Thanatophoric dysplasia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1226349010	Thanatophoric dwarfism	en	Synonym	Active	Case insensitive	SNOMED CT core
1226350010	TD - Thanatophoric dwarfism	en	Synonym	Active	Case sensitive	SNOMED CT core
3036339019	Thanatophoric short stature	en	Synonym	Active	Case insensitive	SNOMED CT core
49116010	Thanatophoric dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
49117018	Thanatophoric dwarfism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
49118011	Thanatophoric dwarf	en	Synonym	Active	Case insensitive	SNOMED CT core
760237016	Thanatophoric dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core